Canonical Allele Identifier: CA370429345

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918919A>C (hg19) ; chr8:g.18061410A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061410A>C , CM000670.2:g.18061410A>C	GRCh38
NC_000008.10:g.17918919A>C , CM000670.1:g.17918919A>C	GRCh37
NC_000008.9:g.17963199A>C	NCBI36
NG_008985.1:g.28589T>G
NG_008985.2:g.28589T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.800T>G	ENSP00000371152.4:p.Phe267Cys
ENST00000517409.2:n.720T>G
ENST00000518746.2:n.2438T>G
ENST00000519545.6:n.769T>G
ENST00000520781.6:c.677T>G	ENSP00000427751.1:p.Phe226Cys
ENST00000521542.2:n.60T>G
ENST00000635756.1:c.165T>G
ENST00000635944.1:c.*588T>G	ENSP00000490195.1:n.*588T>G
ENST00000635998.1:c.752T>G	ENSP00000490506.1:p.Phe251Cys
ENST00000636009.1:c.609T>G	ENSP00000489988.1:n.609T>G
ENST00000636033.1:c.*588T>G	ENSP00000489617.1:n.*588T>G
ENST00000636050.1:c.*595T>G	ENSP00000490562.1:n.*595T>G
ENST00000636128.1:c.431T>G	ENSP00000489789.1:p.Phe144Cys
ENST00000636160.1:c.*644T>G	ENSP00000489651.1:n.*644T>G
ENST00000636171.1:c.695T>G	ENSP00000489761.1:p.Phe232Cys
ENST00000636455.1:c.800T>G	ENSP00000490502.1:p.Phe267Cys
ENST00000636494.1:c.*532T>G	ENSP00000490388.1:n.*532T>G
ENST00000636563.1:n.414T>G
ENST00000636577.1:c.692T>G	ENSP00000490027.1:p.Phe231Cys
ENST00000636691.1:c.557T>G	ENSP00000490725.1:p.Phe186Cys
ENST00000636701.1:c.*403T>G	ENSP00000489800.1:n.*403T>G
ENST00000636815.1:c.669T>G
ENST00000636920.1:c.*588T>G	ENSP00000490437.1:n.*588T>G
ENST00000636997.1:c.665T>G	ENSP00000490093.1:p.Phe222Cys
ENST00000637013.1:c.*1120T>G	ENSP00000490596.1:n.*1120T>G
ENST00000637014.1:n.1159T>G
ENST00000637095.1:c.*532T>G	ENSP00000490415.1:n.*532T>G
ENST00000637244.1:c.*1270T>G	ENSP00000490188.1:n.*1270T>G
ENST00000637343.1:n.2189T>G
ENST00000637429.1:c.*964T>G	ENSP00000490522.1:n.*964T>G
ENST00000637484.1:c.*714T>G	ENSP00000490837.1:n.*714T>G
ENST00000637528.1:c.689T>G	ENSP00000490801.1:p.Phe230Cys
ENST00000637609.1:n.3473T>G
ENST00000637636.1:c.746T>G	ENSP00000490112.1:p.Phe249Cys
ENST00000637790.2:c.752T>G MANE Select	ENSP00000490272.1:p.Phe251Cys
ENST00000637857.1:n.1118T>G
ENST00000637922.1:c.557T>G	ENSP00000490071.1:p.Phe186Cys
ENST00000637991.1:c.725T>G	ENSP00000489901.1:p.Phe242Cys
ENST00000638028.1:n.969T>G
ENST00000638069.1:n.1573T>G
ENST00000262097.10:c.752T>G	ENSP00000262097.6:p.Phe251Cys
ENST00000314146.10:c.734T>G	ENSP00000326970.10:p.Phe245Cys
ENST00000381733.8:c.800T>G	ENSP00000371152.4:p.Phe267Cys
ENST00000518746.1:n.569T>G
ENST00000519468.5:n.581T>G
ENST00000520781.5:c.677T>G	ENSP00000427751.1:p.Phe226Cys
ENST00000521542.1:n.465T>G
NM_001127505.1:c.734T>G	NP_001120977.1:p.Phe245Cys
NM_001127505.2:c.734T>G	NP_001120977.1:p.Phe245Cys
NM_004315.4:c.800T>G	NP_004306.3:p.Phe267Cys
NM_004315.5:c.800T>G	NP_004306.3:p.Phe267Cys
NM_177924.3:c.752T>G	NP_808592.2:p.Phe251Cys
NM_177924.4:c.752T>G	NP_808592.2:p.Phe251Cys
XM_005273504.2:c.686T>G	XP_005273561.1:p.Phe229Cys
NM_001363743.1:c.557T>G	NP_001350672.1:p.Phe186Cys
XM_005273504.3:c.686T>G	XP_005273561.1:p.Phe229Cys
NM_177924.5:c.752T>G MANE Select	NP_808592.2:p.Phe251Cys
NM_001127505.3:c.734T>G	NP_001120977.1:p.Phe245Cys
NM_001363743.2:c.557T>G	NP_001350672.1:p.Phe186Cys
NM_004315.6:c.800T>G	NP_004306.3:p.Phe267Cys