Canonical Allele Identifier: CA370429436

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918944T>A (hg19) ; chr8:g.18061435T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061435T>A , CM000670.2:g.18061435T>A	GRCh38
NC_000008.10:g.17918944T>A , CM000670.1:g.17918944T>A	GRCh37
NC_000008.9:g.17963224T>A	NCBI36
NG_008985.1:g.28564A>T
NG_008985.2:g.28564A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.775A>T	ENSP00000371152.4:p.Lys259Ter
ENST00000517409.2:n.695A>T
ENST00000518746.2:n.2413A>T
ENST00000519545.6:n.744A>T
ENST00000520781.6:c.652A>T	ENSP00000427751.1:p.Lys218Ter
ENST00000521542.2:n.35A>T
ENST00000635756.1:c.140A>T
ENST00000635944.1:c.*563A>T	ENSP00000490195.1:n.*563A>T
ENST00000635998.1:c.727A>T	ENSP00000490506.1:p.Lys243Ter
ENST00000636009.1:c.584A>T	ENSP00000489988.1:n.584A>T
ENST00000636033.1:c.*563A>T	ENSP00000489617.1:n.*563A>T
ENST00000636050.1:c.*570A>T	ENSP00000490562.1:n.*570A>T
ENST00000636128.1:c.406A>T	ENSP00000489789.1:p.Lys136Ter
ENST00000636160.1:c.*619A>T	ENSP00000489651.1:n.*619A>T
ENST00000636171.1:c.670A>T	ENSP00000489761.1:p.Lys224Ter
ENST00000636455.1:c.775A>T	ENSP00000490502.1:p.Lys259Ter
ENST00000636494.1:c.*507A>T	ENSP00000490388.1:n.*507A>T
ENST00000636563.1:n.389A>T
ENST00000636577.1:c.667A>T	ENSP00000490027.1:p.Lys223Ter
ENST00000636691.1:c.532A>T	ENSP00000490725.1:p.Lys178Ter
ENST00000636701.1:c.*378A>T	ENSP00000489800.1:n.*378A>T
ENST00000636815.1:c.644A>T
ENST00000636920.1:c.*563A>T	ENSP00000490437.1:n.*563A>T
ENST00000636997.1:c.640A>T	ENSP00000490093.1:p.Lys214Ter
ENST00000637013.1:c.*1095A>T	ENSP00000490596.1:n.*1095A>T
ENST00000637014.1:n.1134A>T
ENST00000637095.1:c.*507A>T	ENSP00000490415.1:n.*507A>T
ENST00000637244.1:c.*1245A>T	ENSP00000490188.1:n.*1245A>T
ENST00000637343.1:n.2164A>T
ENST00000637429.1:c.*939A>T	ENSP00000490522.1:n.*939A>T
ENST00000637484.1:c.*689A>T	ENSP00000490837.1:n.*689A>T
ENST00000637528.1:c.664A>T	ENSP00000490801.1:p.Lys222Ter
ENST00000637609.1:n.3448A>T
ENST00000637636.1:c.721A>T	ENSP00000490112.1:p.Lys241Ter
ENST00000637790.2:c.727A>T MANE Select	ENSP00000490272.1:p.Lys243Ter
ENST00000637857.1:n.1093A>T
ENST00000637922.1:c.532A>T	ENSP00000490071.1:p.Lys178Ter
ENST00000637991.1:c.700A>T	ENSP00000489901.1:p.Lys234Ter
ENST00000638028.1:n.944A>T
ENST00000638069.1:n.1548A>T
ENST00000262097.10:c.727A>T	ENSP00000262097.6:p.Lys243Ter
ENST00000314146.10:c.709A>T	ENSP00000326970.10:p.Lys237Ter
ENST00000381733.8:c.775A>T	ENSP00000371152.4:p.Lys259Ter
ENST00000518746.1:n.544A>T
ENST00000519468.5:n.556A>T
ENST00000520781.5:c.652A>T	ENSP00000427751.1:p.Lys218Ter
ENST00000521542.1:n.440A>T
NM_001127505.1:c.709A>T	NP_001120977.1:p.Lys237Ter
NM_001127505.2:c.709A>T	NP_001120977.1:p.Lys237Ter
NM_004315.4:c.775A>T	NP_004306.3:p.Lys259Ter
NM_004315.5:c.775A>T	NP_004306.3:p.Lys259Ter
NM_177924.3:c.727A>T	NP_808592.2:p.Lys243Ter
NM_177924.4:c.727A>T	NP_808592.2:p.Lys243Ter
XM_005273504.2:c.661A>T	XP_005273561.1:p.Lys221Ter
NM_001363743.1:c.532A>T	NP_001350672.1:p.Lys178Ter
XM_005273504.3:c.661A>T	XP_005273561.1:p.Lys221Ter
NM_177924.5:c.727A>T MANE Select	NP_808592.2:p.Lys243Ter
NM_001127505.3:c.709A>T	NP_001120977.1:p.Lys237Ter
NM_001363743.2:c.532A>T	NP_001350672.1:p.Lys178Ter
NM_004315.6:c.775A>T	NP_004306.3:p.Lys259Ter