Canonical Allele Identifier: CA370429309

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918908T>C (hg19) ; chr8:g.18061399T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061399T>C , CM000670.2:g.18061399T>C	GRCh38
NC_000008.10:g.17918908T>C , CM000670.1:g.17918908T>C	GRCh37
NC_000008.9:g.17963188T>C	NCBI36
NG_008985.1:g.28600A>G
NG_008985.2:g.28600A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.811A>G	ENSP00000371152.4:p.Thr271Ala
ENST00000517409.2:n.731A>G
ENST00000518746.2:n.2449A>G
ENST00000520781.6:c.688A>G	ENSP00000427751.1:p.Thr230Ala
ENST00000521542.2:n.71A>G
ENST00000635756.1:c.176A>G
ENST00000635944.1:c.*599A>G	ENSP00000490195.1:n.*599A>G
ENST00000635998.1:c.763A>G	ENSP00000490506.1:p.Thr255Ala
ENST00000636009.1:c.620A>G	ENSP00000489988.1:n.620A>G
ENST00000636033.1:c.*599A>G	ENSP00000489617.1:n.*599A>G
ENST00000636050.1:c.*606A>G	ENSP00000490562.1:n.*606A>G
ENST00000636128.1:c.442A>G	ENSP00000489789.1:p.Thr148Ala
ENST00000636160.1:c.*655A>G	ENSP00000489651.1:n.*655A>G
ENST00000636171.1:c.706A>G	ENSP00000489761.1:p.Thr236Ala
ENST00000636455.1:c.811A>G	ENSP00000490502.1:p.Thr271Ala
ENST00000636494.1:c.*543A>G	ENSP00000490388.1:n.*543A>G
ENST00000636563.1:n.425A>G
ENST00000636577.1:c.703A>G	ENSP00000490027.1:p.Thr235Ala
ENST00000636691.1:c.568A>G	ENSP00000490725.1:p.Thr190Ala
ENST00000636701.1:c.*414A>G	ENSP00000489800.1:n.*414A>G
ENST00000636815.1:c.680A>G
ENST00000636920.1:c.*599A>G	ENSP00000490437.1:n.*599A>G
ENST00000636997.1:c.676A>G	ENSP00000490093.1:p.Thr226Ala
ENST00000637013.1:c.*1131A>G	ENSP00000490596.1:n.*1131A>G
ENST00000637014.1:n.1170A>G
ENST00000637095.1:c.*543A>G	ENSP00000490415.1:n.*543A>G
ENST00000637244.1:c.*1281A>G	ENSP00000490188.1:n.*1281A>G
ENST00000637343.1:n.2200A>G
ENST00000637429.1:c.*975A>G	ENSP00000490522.1:n.*975A>G
ENST00000637484.1:c.*725A>G	ENSP00000490837.1:n.*725A>G
ENST00000637528.1:c.700A>G	ENSP00000490801.1:p.Thr234Ala
ENST00000637609.1:n.3484A>G
ENST00000637636.1:c.757A>G	ENSP00000490112.1:p.Thr253Ala
ENST00000637790.2:c.763A>G MANE Select	ENSP00000490272.1:p.Thr255Ala
ENST00000637857.1:n.1129A>G
ENST00000637922.1:c.568A>G	ENSP00000490071.1:p.Thr190Ala
ENST00000637991.1:c.736A>G	ENSP00000489901.1:p.Thr246Ala
ENST00000638028.1:n.980A>G
ENST00000638069.1:n.1584A>G
ENST00000262097.10:c.763A>G	ENSP00000262097.6:p.Thr255Ala
ENST00000314146.10:c.745A>G	ENSP00000326970.10:p.Thr249Ala
ENST00000381733.8:c.811A>G	ENSP00000371152.4:p.Thr271Ala
ENST00000519468.5:n.592A>G
ENST00000520781.5:c.688A>G	ENSP00000427751.1:p.Thr230Ala
ENST00000521542.1:n.476A>G
NM_001127505.1:c.745A>G	NP_001120977.1:p.Thr249Ala
NM_001127505.2:c.745A>G	NP_001120977.1:p.Thr249Ala
NM_004315.4:c.811A>G	NP_004306.3:p.Thr271Ala
NM_004315.5:c.811A>G	NP_004306.3:p.Thr271Ala
NM_177924.3:c.763A>G	NP_808592.2:p.Thr255Ala
NM_177924.4:c.763A>G	NP_808592.2:p.Thr255Ala
XM_005273504.2:c.697A>G	XP_005273561.1:p.Thr233Ala
NM_001363743.1:c.568A>G	NP_001350672.1:p.Thr190Ala
XM_005273504.3:c.697A>G	XP_005273561.1:p.Thr233Ala
NM_177924.5:c.763A>G MANE Select	NP_808592.2:p.Thr255Ala
NM_001127505.3:c.745A>G	NP_001120977.1:p.Thr249Ala
NM_001363743.2:c.568A>G	NP_001350672.1:p.Thr190Ala
NM_004315.6:c.811A>G	NP_004306.3:p.Thr271Ala