Canonical Allele Identifier: CA370429330

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918914T>G (hg19) ; chr8:g.18061405T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061405T>G , CM000670.2:g.18061405T>G	GRCh38
NC_000008.10:g.17918914T>G , CM000670.1:g.17918914T>G	GRCh37
NC_000008.9:g.17963194T>G	NCBI36
NG_008985.1:g.28594A>C
NG_008985.2:g.28594A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.805A>C	ENSP00000371152.4:p.Thr269Pro
ENST00000517409.2:n.725A>C
ENST00000518746.2:n.2443A>C
ENST00000520781.6:c.682A>C	ENSP00000427751.1:p.Thr228Pro
ENST00000521542.2:n.65A>C
ENST00000635756.1:c.170A>C
ENST00000635944.1:c.*593A>C	ENSP00000490195.1:n.*593A>C
ENST00000635998.1:c.757A>C	ENSP00000490506.1:p.Thr253Pro
ENST00000636009.1:c.614A>C	ENSP00000489988.1:n.614A>C
ENST00000636033.1:c.*593A>C	ENSP00000489617.1:n.*593A>C
ENST00000636050.1:c.*600A>C	ENSP00000490562.1:n.*600A>C
ENST00000636128.1:c.436A>C	ENSP00000489789.1:p.Thr146Pro
ENST00000636160.1:c.*649A>C	ENSP00000489651.1:n.*649A>C
ENST00000636171.1:c.700A>C	ENSP00000489761.1:p.Thr234Pro
ENST00000636455.1:c.805A>C	ENSP00000490502.1:p.Thr269Pro
ENST00000636494.1:c.*537A>C	ENSP00000490388.1:n.*537A>C
ENST00000636563.1:n.419A>C
ENST00000636577.1:c.697A>C	ENSP00000490027.1:p.Thr233Pro
ENST00000636691.1:c.562A>C	ENSP00000490725.1:p.Thr188Pro
ENST00000636701.1:c.*408A>C	ENSP00000489800.1:n.*408A>C
ENST00000636815.1:c.674A>C
ENST00000636920.1:c.*593A>C	ENSP00000490437.1:n.*593A>C
ENST00000636997.1:c.670A>C	ENSP00000490093.1:p.Thr224Pro
ENST00000637013.1:c.*1125A>C	ENSP00000490596.1:n.*1125A>C
ENST00000637014.1:n.1164A>C
ENST00000637095.1:c.*537A>C	ENSP00000490415.1:n.*537A>C
ENST00000637244.1:c.*1275A>C	ENSP00000490188.1:n.*1275A>C
ENST00000637343.1:n.2194A>C
ENST00000637429.1:c.*969A>C	ENSP00000490522.1:n.*969A>C
ENST00000637484.1:c.*719A>C	ENSP00000490837.1:n.*719A>C
ENST00000637528.1:c.694A>C	ENSP00000490801.1:p.Thr232Pro
ENST00000637609.1:n.3478A>C
ENST00000637636.1:c.751A>C	ENSP00000490112.1:p.Thr251Pro
ENST00000637790.2:c.757A>C MANE Select	ENSP00000490272.1:p.Thr253Pro
ENST00000637857.1:n.1123A>C
ENST00000637922.1:c.562A>C	ENSP00000490071.1:p.Thr188Pro
ENST00000637991.1:c.730A>C	ENSP00000489901.1:p.Thr244Pro
ENST00000638028.1:n.974A>C
ENST00000638069.1:n.1578A>C
ENST00000262097.10:c.757A>C	ENSP00000262097.6:p.Thr253Pro
ENST00000314146.10:c.739A>C	ENSP00000326970.10:p.Thr247Pro
ENST00000381733.8:c.805A>C	ENSP00000371152.4:p.Thr269Pro
ENST00000518746.1:n.574A>C
ENST00000519468.5:n.586A>C
ENST00000520781.5:c.682A>C	ENSP00000427751.1:p.Thr228Pro
ENST00000521542.1:n.470A>C
NM_001127505.1:c.739A>C	NP_001120977.1:p.Thr247Pro
NM_001127505.2:c.739A>C	NP_001120977.1:p.Thr247Pro
NM_004315.4:c.805A>C	NP_004306.3:p.Thr269Pro
NM_004315.5:c.805A>C	NP_004306.3:p.Thr269Pro
NM_177924.3:c.757A>C	NP_808592.2:p.Thr253Pro
NM_177924.4:c.757A>C	NP_808592.2:p.Thr253Pro
XM_005273504.2:c.691A>C	XP_005273561.1:p.Thr231Pro
NM_001363743.1:c.562A>C	NP_001350672.1:p.Thr188Pro
XM_005273504.3:c.691A>C	XP_005273561.1:p.Thr231Pro
NM_177924.5:c.757A>C MANE Select	NP_808592.2:p.Thr253Pro
NM_001127505.3:c.739A>C	NP_001120977.1:p.Thr247Pro
NM_001363743.2:c.562A>C	NP_001350672.1:p.Thr188Pro
NM_004315.6:c.805A>C	NP_004306.3:p.Thr269Pro