Canonical Allele Identifier: CA370429284

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061392A>G , CM000670.2:g.18061392A>G	GRCh38
NC_000008.10:g.17918901A>G , CM000670.1:g.17918901A>G	GRCh37
NC_000008.9:g.17963181A>G	NCBI36
NG_008985.1:g.28607T>C
NG_008985.2:g.28607T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.770T>C MANE Select	NP_808592.2:p.Leu257Pro
ENST00000637790.2:c.770T>C MANE Select	ENSP00000490272.1:p.Leu257Pro
NM_001127505.1:c.752T>C	NP_001120977.1:p.Leu251Pro
NM_001127505.2:c.752T>C	NP_001120977.1:p.Leu251Pro
NM_001127505.3:c.752T>C	NP_001120977.1:p.Leu251Pro
NM_001363743.1:c.575T>C	NP_001350672.1:p.Leu192Pro
NM_001363743.2:c.575T>C	NP_001350672.1:p.Leu192Pro
NM_004315.4:c.818T>C	NP_004306.3:p.Leu273Pro
NM_004315.5:c.818T>C	NP_004306.3:p.Leu273Pro
NM_004315.6:c.818T>C	NP_004306.3:p.Leu273Pro
NM_177924.3:c.770T>C	NP_808592.2:p.Leu257Pro
NM_177924.4:c.770T>C	NP_808592.2:p.Leu257Pro
ENST00000262097.10:c.770T>C	ENSP00000262097.6:p.Leu257Pro
ENST00000314146.10:c.752T>C	ENSP00000326970.10:p.Leu251Pro
ENST00000381733.8:c.818T>C	ENSP00000371152.4:p.Leu273Pro
ENST00000381733.9:c.818T>C	ENSP00000371152.4:p.Leu273Pro
ENST00000517409.2:n.738T>C
ENST00000518746.2:n.2456T>C
ENST00000519468.5:n.599T>C
ENST00000520781.5:c.695T>C	ENSP00000427751.1:p.Leu232Pro
ENST00000520781.6:c.695T>C	ENSP00000427751.1:p.Leu232Pro
ENST00000521542.1:n.483T>C
ENST00000521542.2:n.78T>C
ENST00000635756.1:c.183T>C
ENST00000635944.1:c.*606T>C	ENSP00000490195.1:n.*606T>C
ENST00000635998.1:c.770T>C	ENSP00000490506.1:p.Leu257Pro
ENST00000636009.1:c.627T>C	ENSP00000489988.1:n.627T>C
ENST00000636033.1:c.*606T>C	ENSP00000489617.1:n.*606T>C
ENST00000636050.1:c.*613T>C	ENSP00000490562.1:n.*613T>C
ENST00000636128.1:c.449T>C	ENSP00000489789.1:p.Leu150Pro
ENST00000636160.1:c.*662T>C	ENSP00000489651.1:n.*662T>C
ENST00000636171.1:c.713T>C	ENSP00000489761.1:p.Leu238Pro
ENST00000636455.1:c.818T>C	ENSP00000490502.1:p.Leu273Pro
ENST00000636494.1:c.*550T>C	ENSP00000490388.1:n.*550T>C
ENST00000636563.1:n.432T>C
ENST00000636577.1:c.710T>C	ENSP00000490027.1:p.Leu237Pro
ENST00000636691.1:c.575T>C	ENSP00000490725.1:p.Leu192Pro
ENST00000636701.1:c.*421T>C	ENSP00000489800.1:n.*421T>C
ENST00000636815.1:c.687T>C
ENST00000636920.1:c.*606T>C	ENSP00000490437.1:n.*606T>C
ENST00000636997.1:c.683T>C	ENSP00000490093.1:p.Leu228Pro
ENST00000637013.1:c.*1138T>C	ENSP00000490596.1:n.*1138T>C
ENST00000637014.1:n.1177T>C
ENST00000637095.1:c.*550T>C	ENSP00000490415.1:n.*550T>C
ENST00000637244.1:c.*1288T>C	ENSP00000490188.1:n.*1288T>C
ENST00000637343.1:n.2207T>C
ENST00000637429.1:c.*982T>C	ENSP00000490522.1:n.*982T>C
ENST00000637484.1:c.*732T>C	ENSP00000490837.1:n.*732T>C
ENST00000637528.1:c.707T>C	ENSP00000490801.1:p.Leu236Pro
ENST00000637609.1:n.3491T>C
ENST00000637636.1:c.764T>C	ENSP00000490112.1:p.Leu255Pro
ENST00000637857.1:n.1136T>C
ENST00000637922.1:c.575T>C	ENSP00000490071.1:p.Leu192Pro
ENST00000637991.1:c.743T>C	ENSP00000489901.1:p.Leu248Pro
ENST00000638028.1:n.987T>C
ENST00000638069.1:n.1591T>C
XM_005273504.2:c.704T>C	XP_005273561.1:p.Leu235Pro
XM_005273504.3:c.704T>C	XP_005273561.1:p.Leu235Pro