Canonical Allele Identifier: CA370429396

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18061422-A-G
• MyVariant Identifiers: chr8:g.17918931A>G (hg19) ; chr8:g.18061422A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061422A>G , CM000670.2:g.18061422A>G	GRCh38
NC_000008.10:g.17918931A>G , CM000670.1:g.17918931A>G	GRCh37
NC_000008.9:g.17963211A>G	NCBI36
NG_008985.1:g.28577T>C
NG_008985.2:g.28577T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.788T>C	ENSP00000371152.4:p.Met263Thr
ENST00000517409.2:n.708T>C
ENST00000518746.2:n.2426T>C
ENST00000519545.6:n.757T>C
ENST00000520781.6:c.665T>C	ENSP00000427751.1:p.Met222Thr
ENST00000521542.2:n.48T>C
ENST00000635756.1:c.153T>C
ENST00000635944.1:c.*576T>C	ENSP00000490195.1:n.*576T>C
ENST00000635998.1:c.740T>C	ENSP00000490506.1:p.Met247Thr
ENST00000636009.1:c.597T>C	ENSP00000489988.1:n.597T>C
ENST00000636033.1:c.*576T>C	ENSP00000489617.1:n.*576T>C
ENST00000636050.1:c.*583T>C	ENSP00000490562.1:n.*583T>C
ENST00000636128.1:c.419T>C	ENSP00000489789.1:p.Met140Thr
ENST00000636160.1:c.*632T>C	ENSP00000489651.1:n.*632T>C
ENST00000636171.1:c.683T>C	ENSP00000489761.1:p.Met228Thr
ENST00000636455.1:c.788T>C	ENSP00000490502.1:p.Met263Thr
ENST00000636494.1:c.*520T>C	ENSP00000490388.1:n.*520T>C
ENST00000636563.1:n.402T>C
ENST00000636577.1:c.680T>C	ENSP00000490027.1:p.Met227Thr
ENST00000636691.1:c.545T>C	ENSP00000490725.1:p.Met182Thr
ENST00000636701.1:c.*391T>C	ENSP00000489800.1:n.*391T>C
ENST00000636815.1:c.657T>C
ENST00000636920.1:c.*576T>C	ENSP00000490437.1:n.*576T>C
ENST00000636997.1:c.653T>C	ENSP00000490093.1:p.Met218Thr
ENST00000637013.1:c.*1108T>C	ENSP00000490596.1:n.*1108T>C
ENST00000637014.1:n.1147T>C
ENST00000637095.1:c.*520T>C	ENSP00000490415.1:n.*520T>C
ENST00000637244.1:c.*1258T>C	ENSP00000490188.1:n.*1258T>C
ENST00000637343.1:n.2177T>C
ENST00000637429.1:c.*952T>C	ENSP00000490522.1:n.*952T>C
ENST00000637484.1:c.*702T>C	ENSP00000490837.1:n.*702T>C
ENST00000637528.1:c.677T>C	ENSP00000490801.1:p.Met226Thr
ENST00000637609.1:n.3461T>C
ENST00000637636.1:c.734T>C	ENSP00000490112.1:p.Met245Thr
ENST00000637790.2:c.740T>C MANE Select	ENSP00000490272.1:p.Met247Thr
ENST00000637857.1:n.1106T>C
ENST00000637922.1:c.545T>C	ENSP00000490071.1:p.Met182Thr
ENST00000637991.1:c.713T>C	ENSP00000489901.1:p.Met238Thr
ENST00000638028.1:n.957T>C
ENST00000638069.1:n.1561T>C
ENST00000262097.10:c.740T>C	ENSP00000262097.6:p.Met247Thr
ENST00000314146.10:c.722T>C	ENSP00000326970.10:p.Met241Thr
ENST00000381733.8:c.788T>C	ENSP00000371152.4:p.Met263Thr
ENST00000518746.1:n.557T>C
ENST00000519468.5:n.569T>C
ENST00000520781.5:c.665T>C	ENSP00000427751.1:p.Met222Thr
ENST00000521542.1:n.453T>C
NM_001127505.1:c.722T>C	NP_001120977.1:p.Met241Thr
NM_001127505.2:c.722T>C	NP_001120977.1:p.Met241Thr
NM_004315.4:c.788T>C	NP_004306.3:p.Met263Thr
NM_004315.5:c.788T>C	NP_004306.3:p.Met263Thr
NM_177924.3:c.740T>C	NP_808592.2:p.Met247Thr
NM_177924.4:c.740T>C	NP_808592.2:p.Met247Thr
XM_005273504.2:c.674T>C	XP_005273561.1:p.Met225Thr
NM_001363743.1:c.545T>C	NP_001350672.1:p.Met182Thr
XM_005273504.3:c.674T>C	XP_005273561.1:p.Met225Thr
NM_177924.5:c.740T>C MANE Select	NP_808592.2:p.Met247Thr
NM_001127505.3:c.722T>C	NP_001120977.1:p.Met241Thr
NM_001363743.2:c.545T>C	NP_001350672.1:p.Met182Thr
NM_004315.6:c.788T>C	NP_004306.3:p.Met263Thr