Canonical Allele Identifier: CA370429342

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18061409-G-C
• MyVariant Identifiers: chr8:g.17918918G>C (hg19) ; chr8:g.18061409G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061409G>C , CM000670.2:g.18061409G>C	GRCh38
NC_000008.10:g.17918918G>C , CM000670.1:g.17918918G>C	GRCh37
NC_000008.9:g.17963198G>C	NCBI36
NG_008985.1:g.28590C>G
NG_008985.2:g.28590C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.801C>G	ENSP00000371152.4:p.Phe267Leu
ENST00000517409.2:n.721C>G
ENST00000518746.2:n.2439C>G
ENST00000519545.6:n.770C>G
ENST00000520781.6:c.678C>G	ENSP00000427751.1:p.Phe226Leu
ENST00000521542.2:n.61C>G
ENST00000635756.1:c.166C>G
ENST00000635944.1:c.*589C>G	ENSP00000490195.1:n.*589C>G
ENST00000635998.1:c.753C>G	ENSP00000490506.1:p.Phe251Leu
ENST00000636009.1:c.610C>G	ENSP00000489988.1:n.610C>G
ENST00000636033.1:c.*589C>G	ENSP00000489617.1:n.*589C>G
ENST00000636050.1:c.*596C>G	ENSP00000490562.1:n.*596C>G
ENST00000636128.1:c.432C>G	ENSP00000489789.1:p.Phe144Leu
ENST00000636160.1:c.*645C>G	ENSP00000489651.1:n.*645C>G
ENST00000636171.1:c.696C>G	ENSP00000489761.1:p.Phe232Leu
ENST00000636455.1:c.801C>G	ENSP00000490502.1:p.Phe267Leu
ENST00000636494.1:c.*533C>G	ENSP00000490388.1:n.*533C>G
ENST00000636563.1:n.415C>G
ENST00000636577.1:c.693C>G	ENSP00000490027.1:p.Phe231Leu
ENST00000636691.1:c.558C>G	ENSP00000490725.1:p.Phe186Leu
ENST00000636701.1:c.*404C>G	ENSP00000489800.1:n.*404C>G
ENST00000636815.1:c.670C>G
ENST00000636920.1:c.*589C>G	ENSP00000490437.1:n.*589C>G
ENST00000636997.1:c.666C>G	ENSP00000490093.1:p.Phe222Leu
ENST00000637013.1:c.*1121C>G	ENSP00000490596.1:n.*1121C>G
ENST00000637014.1:n.1160C>G
ENST00000637095.1:c.*533C>G	ENSP00000490415.1:n.*533C>G
ENST00000637244.1:c.*1271C>G	ENSP00000490188.1:n.*1271C>G
ENST00000637343.1:n.2190C>G
ENST00000637429.1:c.*965C>G	ENSP00000490522.1:n.*965C>G
ENST00000637484.1:c.*715C>G	ENSP00000490837.1:n.*715C>G
ENST00000637528.1:c.690C>G	ENSP00000490801.1:p.Phe230Leu
ENST00000637609.1:n.3474C>G
ENST00000637636.1:c.747C>G	ENSP00000490112.1:p.Phe249Leu
ENST00000637790.2:c.753C>G MANE Select	ENSP00000490272.1:p.Phe251Leu
ENST00000637857.1:n.1119C>G
ENST00000637922.1:c.558C>G	ENSP00000490071.1:p.Phe186Leu
ENST00000637991.1:c.726C>G	ENSP00000489901.1:p.Phe242Leu
ENST00000638028.1:n.970C>G
ENST00000638069.1:n.1574C>G
ENST00000262097.10:c.753C>G	ENSP00000262097.6:p.Phe251Leu
ENST00000314146.10:c.735C>G	ENSP00000326970.10:p.Phe245Leu
ENST00000381733.8:c.801C>G	ENSP00000371152.4:p.Phe267Leu
ENST00000518746.1:n.570C>G
ENST00000519468.5:n.582C>G
ENST00000520781.5:c.678C>G	ENSP00000427751.1:p.Phe226Leu
ENST00000521542.1:n.466C>G
NM_001127505.1:c.735C>G	NP_001120977.1:p.Phe245Leu
NM_001127505.2:c.735C>G	NP_001120977.1:p.Phe245Leu
NM_004315.4:c.801C>G	NP_004306.3:p.Phe267Leu
NM_004315.5:c.801C>G	NP_004306.3:p.Phe267Leu
NM_177924.3:c.753C>G	NP_808592.2:p.Phe251Leu
NM_177924.4:c.753C>G	NP_808592.2:p.Phe251Leu
XM_005273504.2:c.687C>G	XP_005273561.1:p.Phe229Leu
NM_001363743.1:c.558C>G	NP_001350672.1:p.Phe186Leu
XM_005273504.3:c.687C>G	XP_005273561.1:p.Phe229Leu
NM_177924.5:c.753C>G MANE Select	NP_808592.2:p.Phe251Leu
NM_001127505.3:c.735C>G	NP_001120977.1:p.Phe245Leu
NM_001363743.2:c.558C>G	NP_001350672.1:p.Phe186Leu
NM_004315.6:c.801C>G	NP_004306.3:p.Phe267Leu