Canonical Allele Identifier: CA4650863

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 1447882
• ClinVar RCV Id: RCV001996965
• dbSNP Id: rs746760837
• ExAC: 8:17922022 T / C
• gnomAD v2: 8-17922022-T-C
• gnomAD v3: 8-18064513-T-C
• gnomAD v4: 8-18064513-T-C
• COSMIC: COSM6242328 ; COSM6242329 ; COSM6242330
• MyVariant Identifiers: chr8:g.17922022T>C (hg19) ; chr8:g.18064513T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064513T>C , CM000670.2:g.18064513T>C	GRCh38
NC_000008.10:g.17922022T>C , CM000670.1:g.17922022T>C	GRCh37
NC_000008.9:g.17966302T>C	NCBI36
NG_008985.1:g.25486A>G
NG_008985.2:g.25486A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.449A>G	ENSP00000371152.4:p.Asn150Ser
ENST00000519545.6:n.418A>G
ENST00000520781.6:c.383-1283A>G	ENSP00000427751.1:n.383-1283A>G
ENST00000523593.6:c.*244A>G	ENSP00000490700.1:n.*244A>G
ENST00000523744.2:n.4159A>G
ENST00000635769.1:c.422A>G	ENSP00000490485.1:p.Asn141Ser
ENST00000635944.1:c.*237A>G	ENSP00000490195.1:n.*237A>G
ENST00000635998.1:c.401A>G	ENSP00000490506.1:p.Asn134Ser
ENST00000636009.1:c.315-1283A>G	ENSP00000489988.1:n.315-1283A>G
ENST00000636033.1:c.*237A>G	ENSP00000489617.1:n.*237A>G
ENST00000636050.1:c.*244A>G	ENSP00000490562.1:n.*244A>G
ENST00000636128.1:c.382+2707A>G	ENSP00000489789.1:n.382+2707A>G
ENST00000636160.1:c.*293A>G	ENSP00000489651.1:n.*293A>G
ENST00000636171.1:c.383-39A>G	ENSP00000489761.1:n.383-39A>G
ENST00000636299.1:c.*172A>G	ENSP00000490202.1:n.*172A>G
ENST00000636435.1:n.3173A>G
ENST00000636455.1:c.449A>G	ENSP00000490502.1:p.Asn150Ser
ENST00000636494.1:c.*181A>G	ENSP00000490388.1:n.*181A>G
ENST00000636563.1:n.63A>G
ENST00000636577.1:c.383-42A>G	ENSP00000490027.1:n.383-42A>G
ENST00000636691.1:c.206A>G	ENSP00000490725.1:p.Asn69Ser
ENST00000636701.1:c.*52A>G	ENSP00000489800.1:n.*52A>G
ENST00000636815.1:c.318A>G
ENST00000636823.1:c.206A>G	ENSP00000490798.1:p.Asn69Ser
ENST00000636828.1:n.3265A>G
ENST00000636920.1:c.*237A>G	ENSP00000490437.1:n.*237A>G
ENST00000636997.1:c.314A>G	ENSP00000490093.1:p.Asn105Ser
ENST00000637013.1:c.*613A>G	ENSP00000490596.1:n.*613A>G
ENST00000637095.1:c.*181A>G	ENSP00000490415.1:n.*181A>G
ENST00000637244.1:c.*919A>G	ENSP00000490188.1:n.*919A>G
ENST00000637343.1:n.612A>G
ENST00000637429.1:c.*613A>G	ENSP00000490522.1:n.*613A>G
ENST00000637484.1:c.*420-1283A>G	ENSP00000490837.1:n.*420-1283A>G
ENST00000637528.1:c.383-45A>G	ENSP00000490801.1:n.383-45A>G
ENST00000637603.1:c.371A>G	ENSP00000489979.1:p.Asn124Ser
ENST00000637609.1:n.3122A>G
ENST00000637636.1:c.395A>G	ENSP00000490112.1:p.Asn132Ser
ENST00000637638.1:c.401A>G	ENSP00000490774.1:p.Asn134Ser
ENST00000637718.1:c.206A>G	ENSP00000490133.1:p.Asn69Ser
ENST00000637790.2:c.401A>G MANE Select	ENSP00000490272.1:p.Asn134Ser
ENST00000637857.1:n.105-2090A>G
ENST00000637922.1:c.206A>G	ENSP00000490071.1:p.Asn69Ser
ENST00000637991.1:c.431-1283A>G	ENSP00000489901.1:n.431-1283A>G
ENST00000638069.1:n.457A>G
ENST00000262097.10:c.401A>G	ENSP00000262097.6:p.Asn134Ser
ENST00000314146.10:c.383A>G	ENSP00000326970.10:p.Asn128Ser
ENST00000381733.8:c.449A>G	ENSP00000371152.4:p.Asn150Ser
ENST00000519468.5:n.389-2146A>G
ENST00000519545.5:n.415A>G
ENST00000520781.5:c.383-1283A>G	ENSP00000427751.1:n.383-1283A>G
ENST00000523593.5:n.254A>G
ENST00000523744.1:n.404A>G
NM_001127505.1:c.383A>G	NP_001120977.1:p.Asn128Ser
NM_001127505.2:c.383A>G	NP_001120977.1:p.Asn128Ser
NM_004315.4:c.449A>G	NP_004306.3:p.Asn150Ser
NM_004315.5:c.449A>G	NP_004306.3:p.Asn150Ser
NM_177924.3:c.401A>G	NP_808592.2:p.Asn134Ser
NM_177924.4:c.401A>G	NP_808592.2:p.Asn134Ser
XM_005273504.2:c.335A>G	XP_005273561.1:p.Asn112Ser
NM_001363743.1:c.206A>G	NP_001350672.1:p.Asn69Ser
XM_005273504.3:c.335A>G	XP_005273561.1:p.Asn112Ser
NM_177924.5:c.401A>G MANE Select	NP_808592.2:p.Asn134Ser
NM_001127505.3:c.383A>G	NP_001120977.1:p.Asn128Ser
NM_001363743.2:c.206A>G	NP_001350672.1:p.Asn69Ser
NM_004315.6:c.449A>G	NP_004306.3:p.Asn150Ser