Canonical Allele Identifier: CA370431835

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18064525-A-G
• MyVariant Identifiers: chr8:g.17922034A>G (hg19) ; chr8:g.18064525A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064525A>G , CM000670.2:g.18064525A>G	GRCh38
NC_000008.10:g.17922034A>G , CM000670.1:g.17922034A>G	GRCh37
NC_000008.9:g.17966314A>G	NCBI36
NG_008985.1:g.25474T>C
NG_008985.2:g.25474T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.437T>C	ENSP00000371152.4:p.Ile146Thr
ENST00000519545.6:n.406T>C
ENST00000520781.6:c.383-1295T>C	ENSP00000427751.1:n.383-1295T>C
ENST00000523593.6:c.*232T>C	ENSP00000490700.1:n.*232T>C
ENST00000523744.2:n.4147T>C
ENST00000635769.1:c.410T>C	ENSP00000490485.1:p.Ile137Thr
ENST00000635944.1:c.*225T>C	ENSP00000490195.1:n.*225T>C
ENST00000635998.1:c.389T>C	ENSP00000490506.1:p.Ile130Thr
ENST00000636009.1:c.315-1295T>C	ENSP00000489988.1:n.315-1295T>C
ENST00000636033.1:c.*225T>C	ENSP00000489617.1:n.*225T>C
ENST00000636050.1:c.*232T>C	ENSP00000490562.1:n.*232T>C
ENST00000636128.1:c.382+2695T>C	ENSP00000489789.1:n.382+2695T>C
ENST00000636160.1:c.*281T>C	ENSP00000489651.1:n.*281T>C
ENST00000636171.1:c.383-51T>C	ENSP00000489761.1:n.383-51T>C
ENST00000636299.1:c.*160T>C	ENSP00000490202.1:n.*160T>C
ENST00000636435.1:n.3161T>C
ENST00000636455.1:c.437T>C	ENSP00000490502.1:p.Ile146Thr
ENST00000636494.1:c.*169T>C	ENSP00000490388.1:n.*169T>C
ENST00000636563.1:n.51T>C
ENST00000636577.1:c.383-54T>C	ENSP00000490027.1:n.383-54T>C
ENST00000636691.1:c.194T>C	ENSP00000490725.1:p.Ile65Thr
ENST00000636701.1:c.*40T>C	ENSP00000489800.1:n.*40T>C
ENST00000636815.1:c.306T>C
ENST00000636823.1:c.194T>C	ENSP00000490798.1:p.Ile65Thr
ENST00000636828.1:n.3253T>C
ENST00000636920.1:c.*225T>C	ENSP00000490437.1:n.*225T>C
ENST00000636997.1:c.302T>C	ENSP00000490093.1:p.Ile101Thr
ENST00000637013.1:c.*601T>C	ENSP00000490596.1:n.*601T>C
ENST00000637095.1:c.*169T>C	ENSP00000490415.1:n.*169T>C
ENST00000637244.1:c.*907T>C	ENSP00000490188.1:n.*907T>C
ENST00000637343.1:n.600T>C
ENST00000637429.1:c.*601T>C	ENSP00000490522.1:n.*601T>C
ENST00000637484.1:c.*420-1295T>C	ENSP00000490837.1:n.*420-1295T>C
ENST00000637528.1:c.383-57T>C	ENSP00000490801.1:n.383-57T>C
ENST00000637603.1:c.359T>C	ENSP00000489979.1:p.Ile120Thr
ENST00000637609.1:n.3110T>C
ENST00000637636.1:c.383T>C	ENSP00000490112.1:p.Ile128Thr
ENST00000637638.1:c.389T>C	ENSP00000490774.1:p.Ile130Thr
ENST00000637718.1:c.194T>C	ENSP00000490133.1:p.Ile65Thr
ENST00000637790.2:c.389T>C MANE Select	ENSP00000490272.1:p.Ile130Thr
ENST00000637857.1:n.105-2102T>C
ENST00000637922.1:c.194T>C	ENSP00000490071.1:p.Ile65Thr
ENST00000637991.1:c.431-1295T>C	ENSP00000489901.1:n.431-1295T>C
ENST00000638069.1:n.445T>C
ENST00000262097.10:c.389T>C	ENSP00000262097.6:p.Ile130Thr
ENST00000314146.10:c.371T>C	ENSP00000326970.10:p.Ile124Thr
ENST00000381733.8:c.437T>C	ENSP00000371152.4:p.Ile146Thr
ENST00000519468.5:n.389-2158T>C
ENST00000519545.5:n.403T>C
ENST00000520781.5:c.383-1295T>C	ENSP00000427751.1:n.383-1295T>C
ENST00000523593.5:n.242T>C
ENST00000523744.1:n.392T>C
NM_001127505.1:c.371T>C	NP_001120977.1:p.Ile124Thr
NM_001127505.2:c.371T>C	NP_001120977.1:p.Ile124Thr
NM_004315.4:c.437T>C	NP_004306.3:p.Ile146Thr
NM_004315.5:c.437T>C	NP_004306.3:p.Ile146Thr
NM_177924.3:c.389T>C	NP_808592.2:p.Ile130Thr
NM_177924.4:c.389T>C	NP_808592.2:p.Ile130Thr
XM_005273504.2:c.323T>C	XP_005273561.1:p.Ile108Thr
NM_001363743.1:c.194T>C	NP_001350672.1:p.Ile65Thr
XM_005273504.3:c.323T>C	XP_005273561.1:p.Ile108Thr
NM_177924.5:c.389T>C MANE Select	NP_808592.2:p.Ile130Thr
NM_001127505.3:c.371T>C	NP_001120977.1:p.Ile124Thr
NM_001363743.2:c.194T>C	NP_001350672.1:p.Ile65Thr
NM_004315.6:c.437T>C	NP_004306.3:p.Ile146Thr