Canonical Allele Identifier: CA4651074

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18075542T>C , CM000670.2:g.18075542T>C	GRCh38
NC_000008.10:g.17933051T>C , CM000670.1:g.17933051T>C	GRCh37
NC_000008.9:g.17977331T>C	NCBI36
NG_008985.1:g.14457A>G
NG_008985.2:g.14457A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.124A>G MANE Select	NP_808592.2:p.Thr42Ala
ENST00000637790.2:c.124A>G MANE Select	ENSP00000490272.1:p.Thr42Ala
NM_001127505.1:c.172A>G	NP_001120977.1:p.Thr58Ala
NM_001127505.2:c.172A>G	NP_001120977.1:p.Thr58Ala
NM_001127505.3:c.172A>G	NP_001120977.1:p.Thr58Ala
NM_001363743.1:c.-72A>G	NP_001350672.1:n.-72A>G
NM_001363743.2:c.-72A>G	NP_001350672.1:n.-72A>G
NM_004315.4:c.172A>G	NP_004306.3:p.Thr58Ala
NM_004315.5:c.172A>G	NP_004306.3:p.Thr58Ala
NM_004315.6:c.172A>G	NP_004306.3:p.Thr58Ala
NM_177924.3:c.124A>G	NP_808592.2:p.Thr42Ala
NM_177924.4:c.124A>G	NP_808592.2:p.Thr42Ala
ENST00000262097.10:c.124A>G	ENSP00000262097.6:p.Thr42Ala
ENST00000314146.10:c.172A>G	ENSP00000326970.10:p.Thr58Ala
ENST00000381733.8:c.172A>G	ENSP00000371152.4:p.Thr58Ala
ENST00000381733.9:c.172A>G	ENSP00000371152.4:p.Thr58Ala
ENST00000518087.6:n.172A>G
ENST00000518087.7:c.188A>G	ENSP00000490753.1:p.Asn63Ser
ENST00000519468.5:n.130A>G
ENST00000519545.5:n.138A>G
ENST00000519545.6:n.141A>G
ENST00000520051.1:n.710A>G
ENST00000520781.5:c.124A>G	ENSP00000427751.1:p.Thr42Ala
ENST00000520781.6:c.124A>G	ENSP00000427751.1:p.Thr42Ala
ENST00000523593.5:n.155A>G
ENST00000523593.6:c.117A>G	ENSP00000490700.1:p.Gln39=
ENST00000635769.1:c.124A>G	ENSP00000490485.1:p.Thr42Ala
ENST00000635944.1:c.188A>G	ENSP00000490195.1:p.Asn63Ser
ENST00000635998.1:c.124A>G	ENSP00000490506.1:p.Thr42Ala
ENST00000636009.1:c.56A>G	ENSP00000489988.1:p.Asn19Ser
ENST00000636033.1:c.206A>G	ENSP00000489617.1:p.Asn69Ser
ENST00000636050.1:c.261A>G	ENSP00000490562.1:p.Gln87=
ENST00000636128.1:c.124A>G	ENSP00000489789.1:p.Thr42Ala
ENST00000636160.1:c.124A>G	ENSP00000489651.1:p.Thr42Ala
ENST00000636171.1:c.124A>G	ENSP00000489761.1:p.Thr42Ala
ENST00000636269.1:c.-72A>G	ENSP00000490738.1:n.-72A>G
ENST00000636299.1:c.172A>G	ENSP00000490202.1:p.Thr58Ala
ENST00000636435.1:n.208A>G
ENST00000636455.1:c.172A>G	ENSP00000490502.1:p.Thr58Ala
ENST00000636494.1:c.124A>G	ENSP00000490388.1:p.Thr42Ala
ENST00000636537.1:c.172A>G	ENSP00000489914.1:p.Thr58Ala
ENST00000636577.1:c.124A>G	ENSP00000490027.1:p.Thr42Ala
ENST00000636691.1:c.-72A>G	ENSP00000490725.1:n.-72A>G
ENST00000636701.1:c.124A>G	ENSP00000489800.1:p.Thr42Ala
ENST00000636715.1:c.172A>G	ENSP00000490876.1:p.Thr58Ala
ENST00000636815.1:c.132A>G
ENST00000636823.1:c.-72A>G	ENSP00000490798.1:n.-72A>G
ENST00000636828.1:n.300A>G
ENST00000636920.1:c.164A>G	ENSP00000490437.1:p.Asn55Ser
ENST00000636997.1:c.124A>G	ENSP00000490093.1:p.Thr42Ala
ENST00000637013.1:c.*336A>G	ENSP00000490596.1:n.*336A>G
ENST00000637095.1:c.124A>G	ENSP00000490415.1:p.Thr42Ala
ENST00000637202.1:c.124A>G	ENSP00000490129.1:p.Thr42Ala
ENST00000637244.1:c.*642A>G	ENSP00000490188.1:n.*642A>G
ENST00000637429.1:c.*336A>G	ENSP00000490522.1:n.*336A>G
ENST00000637484.1:c.*161A>G	ENSP00000490837.1:n.*161A>G
ENST00000637528.1:c.124A>G	ENSP00000490801.1:p.Thr42Ala
ENST00000637536.1:c.478A>G	ENSP00000490464.1:p.Thr160Ala
ENST00000637561.1:c.124A>G	ENSP00000490536.1:p.Thr42Ala
ENST00000637603.1:c.124A>G	ENSP00000489979.1:p.Thr42Ala
ENST00000637609.1:n.157A>G
ENST00000637636.1:c.124A>G	ENSP00000490112.1:p.Thr42Ala
ENST00000637638.1:c.124A>G	ENSP00000490774.1:p.Thr42Ala
ENST00000637718.1:c.-72A>G	ENSP00000490133.1:n.-72A>G
ENST00000637792.1:c.172A>G	ENSP00000490423.1:p.Thr58Ala
ENST00000637805.1:c.176A>G	ENSP00000489884.1:p.Asn59Ser
ENST00000637872.1:c.-72A>G	ENSP00000490432.1:n.-72A>G
ENST00000637898.1:n.154A>G
ENST00000637922.1:c.-72A>G	ENSP00000490071.1:n.-72A>G
ENST00000637946.1:c.*573A>G	ENSP00000490025.1:n.*573A>G
ENST00000637991.1:c.172A>G	ENSP00000489901.1:p.Thr58Ala
ENST00000638069.1:n.180A>G
XM_005273504.2:c.58A>G	XP_005273561.1:p.Thr20Ala
XM_005273504.3:c.58A>G	XP_005273561.1:p.Thr20Ala