Canonical Allele Identifier: CA370429388

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918930C>A (hg19) ; chr8:g.18061421C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061421C>A , CM000670.2:g.18061421C>A	GRCh38
NC_000008.10:g.17918930C>A , CM000670.1:g.17918930C>A	GRCh37
NC_000008.9:g.17963210C>A	NCBI36
NG_008985.1:g.28578G>T
NG_008985.2:g.28578G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.789G>T	ENSP00000371152.4:p.Met263Ile
ENST00000517409.2:n.709G>T
ENST00000518746.2:n.2427G>T
ENST00000519545.6:n.758G>T
ENST00000520781.6:c.666G>T	ENSP00000427751.1:p.Met222Ile
ENST00000521542.2:n.49G>T
ENST00000635756.1:c.154G>T
ENST00000635944.1:c.*577G>T	ENSP00000490195.1:n.*577G>T
ENST00000635998.1:c.741G>T	ENSP00000490506.1:p.Met247Ile
ENST00000636009.1:c.598G>T	ENSP00000489988.1:n.598G>T
ENST00000636033.1:c.*577G>T	ENSP00000489617.1:n.*577G>T
ENST00000636050.1:c.*584G>T	ENSP00000490562.1:n.*584G>T
ENST00000636128.1:c.420G>T	ENSP00000489789.1:p.Met140Ile
ENST00000636160.1:c.*633G>T	ENSP00000489651.1:n.*633G>T
ENST00000636171.1:c.684G>T	ENSP00000489761.1:p.Met228Ile
ENST00000636455.1:c.789G>T	ENSP00000490502.1:p.Met263Ile
ENST00000636494.1:c.*521G>T	ENSP00000490388.1:n.*521G>T
ENST00000636563.1:n.403G>T
ENST00000636577.1:c.681G>T	ENSP00000490027.1:p.Met227Ile
ENST00000636691.1:c.546G>T	ENSP00000490725.1:p.Met182Ile
ENST00000636701.1:c.*392G>T	ENSP00000489800.1:n.*392G>T
ENST00000636815.1:c.658G>T
ENST00000636920.1:c.*577G>T	ENSP00000490437.1:n.*577G>T
ENST00000636997.1:c.654G>T	ENSP00000490093.1:p.Met218Ile
ENST00000637013.1:c.*1109G>T	ENSP00000490596.1:n.*1109G>T
ENST00000637014.1:n.1148G>T
ENST00000637095.1:c.*521G>T	ENSP00000490415.1:n.*521G>T
ENST00000637244.1:c.*1259G>T	ENSP00000490188.1:n.*1259G>T
ENST00000637343.1:n.2178G>T
ENST00000637429.1:c.*953G>T	ENSP00000490522.1:n.*953G>T
ENST00000637484.1:c.*703G>T	ENSP00000490837.1:n.*703G>T
ENST00000637528.1:c.678G>T	ENSP00000490801.1:p.Met226Ile
ENST00000637609.1:n.3462G>T
ENST00000637636.1:c.735G>T	ENSP00000490112.1:p.Met245Ile
ENST00000637790.2:c.741G>T MANE Select	ENSP00000490272.1:p.Met247Ile
ENST00000637857.1:n.1107G>T
ENST00000637922.1:c.546G>T	ENSP00000490071.1:p.Met182Ile
ENST00000637991.1:c.714G>T	ENSP00000489901.1:p.Met238Ile
ENST00000638028.1:n.958G>T
ENST00000638069.1:n.1562G>T
ENST00000262097.10:c.741G>T	ENSP00000262097.6:p.Met247Ile
ENST00000314146.10:c.723G>T	ENSP00000326970.10:p.Met241Ile
ENST00000381733.8:c.789G>T	ENSP00000371152.4:p.Met263Ile
ENST00000518746.1:n.558G>T
ENST00000519468.5:n.570G>T
ENST00000520781.5:c.666G>T	ENSP00000427751.1:p.Met222Ile
ENST00000521542.1:n.454G>T
NM_001127505.1:c.723G>T	NP_001120977.1:p.Met241Ile
NM_001127505.2:c.723G>T	NP_001120977.1:p.Met241Ile
NM_004315.4:c.789G>T	NP_004306.3:p.Met263Ile
NM_004315.5:c.789G>T	NP_004306.3:p.Met263Ile
NM_177924.3:c.741G>T	NP_808592.2:p.Met247Ile
NM_177924.4:c.741G>T	NP_808592.2:p.Met247Ile
XM_005273504.2:c.675G>T	XP_005273561.1:p.Met225Ile
NM_001363743.1:c.546G>T	NP_001350672.1:p.Met182Ile
XM_005273504.3:c.675G>T	XP_005273561.1:p.Met225Ile
NM_177924.5:c.741G>T MANE Select	NP_808592.2:p.Met247Ile
NM_001127505.3:c.723G>T	NP_001120977.1:p.Met241Ile
NM_001363743.2:c.546G>T	NP_001350672.1:p.Met182Ile
NM_004315.6:c.789G>T	NP_004306.3:p.Met263Ile