Canonical Allele Identifier: CA459662187

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918902G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061393G>A , CM000670.2:g.18061393G>A	GRCh38
NC_000008.10:g.17918902G>A , CM000670.1:g.17918902G>A	GRCh37
NC_000008.9:g.17963182G>A	NCBI36
NG_008985.1:g.28606C>T
NG_008985.2:g.28606C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.817C>T	ENSP00000371152.4:p.Leu273=
ENST00000517409.2:n.737C>T
ENST00000518746.2:n.2455C>T
ENST00000520781.6:c.694C>T	ENSP00000427751.1:p.Leu232=
ENST00000521542.2:n.77C>T
ENST00000635756.1:c.182C>T
ENST00000635944.1:c.*605C>T	ENSP00000490195.1:n.*605C>T
ENST00000635998.1:c.769C>T	ENSP00000490506.1:p.Leu257=
ENST00000636009.1:c.626C>T	ENSP00000489988.1:n.626C>T
ENST00000636033.1:c.*605C>T	ENSP00000489617.1:n.*605C>T
ENST00000636050.1:c.*612C>T	ENSP00000490562.1:n.*612C>T
ENST00000636128.1:c.448C>T	ENSP00000489789.1:p.Leu150=
ENST00000636160.1:c.*661C>T	ENSP00000489651.1:n.*661C>T
ENST00000636171.1:c.712C>T	ENSP00000489761.1:p.Leu238=
ENST00000636455.1:c.817C>T	ENSP00000490502.1:p.Leu273=
ENST00000636494.1:c.*549C>T	ENSP00000490388.1:n.*549C>T
ENST00000636563.1:n.431C>T
ENST00000636577.1:c.709C>T	ENSP00000490027.1:p.Leu237=
ENST00000636691.1:c.574C>T	ENSP00000490725.1:p.Leu192=
ENST00000636701.1:c.*420C>T	ENSP00000489800.1:n.*420C>T
ENST00000636815.1:c.686C>T
ENST00000636920.1:c.*605C>T	ENSP00000490437.1:n.*605C>T
ENST00000636997.1:c.682C>T	ENSP00000490093.1:p.Leu228=
ENST00000637013.1:c.*1137C>T	ENSP00000490596.1:n.*1137C>T
ENST00000637014.1:n.1176C>T
ENST00000637095.1:c.*549C>T	ENSP00000490415.1:n.*549C>T
ENST00000637244.1:c.*1287C>T	ENSP00000490188.1:n.*1287C>T
ENST00000637343.1:n.2206C>T
ENST00000637429.1:c.*981C>T	ENSP00000490522.1:n.*981C>T
ENST00000637484.1:c.*731C>T	ENSP00000490837.1:n.*731C>T
ENST00000637528.1:c.706C>T	ENSP00000490801.1:p.Leu236=
ENST00000637609.1:n.3490C>T
ENST00000637636.1:c.763C>T	ENSP00000490112.1:p.Leu255=
ENST00000637790.2:c.769C>T MANE Select	ENSP00000490272.1:p.Leu257=
ENST00000637857.1:n.1135C>T
ENST00000637922.1:c.574C>T	ENSP00000490071.1:p.Leu192=
ENST00000637991.1:c.742C>T	ENSP00000489901.1:p.Leu248=
ENST00000638028.1:n.986C>T
ENST00000638069.1:n.1590C>T
ENST00000262097.10:c.769C>T	ENSP00000262097.6:p.Leu257=
ENST00000314146.10:c.751C>T	ENSP00000326970.10:p.Leu251=
ENST00000381733.8:c.817C>T	ENSP00000371152.4:p.Leu273=
ENST00000519468.5:n.598C>T
ENST00000520781.5:c.694C>T	ENSP00000427751.1:p.Leu232=
ENST00000521542.1:n.482C>T
NM_001127505.1:c.751C>T	NP_001120977.1:p.Leu251=
NM_001127505.2:c.751C>T	NP_001120977.1:p.Leu251=
NM_004315.4:c.817C>T	NP_004306.3:p.Leu273=
NM_004315.5:c.817C>T	NP_004306.3:p.Leu273=
NM_177924.3:c.769C>T	NP_808592.2:p.Leu257=
NM_177924.4:c.769C>T	NP_808592.2:p.Leu257=
XM_005273504.2:c.703C>T	XP_005273561.1:p.Leu235=
NM_001363743.1:c.574C>T	NP_001350672.1:p.Leu192=
XM_005273504.3:c.703C>T	XP_005273561.1:p.Leu235=
NM_177924.5:c.769C>T MANE Select	NP_808592.2:p.Leu257=
NM_001127505.3:c.751C>T	NP_001120977.1:p.Leu251=
NM_001363743.2:c.574C>T	NP_001350672.1:p.Leu192=
NM_004315.6:c.817C>T	NP_004306.3:p.Leu273=