Canonical Allele Identifier: CA459662179

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918888T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061379T>C , CM000670.2:g.18061379T>C	GRCh38
NC_000008.10:g.17918888T>C , CM000670.1:g.17918888T>C	GRCh37
NC_000008.9:g.17963168T>C	NCBI36
NG_008985.1:g.28620A>G
NG_008985.2:g.28620A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.831A>G	ENSP00000371152.4:p.Thr277=
ENST00000518746.2:n.2469A>G
ENST00000520781.6:c.708A>G	ENSP00000427751.1:p.Thr236=
ENST00000521542.2:n.91A>G
ENST00000635756.1:c.196A>G
ENST00000635944.1:c.*619A>G	ENSP00000490195.1:n.*619A>G
ENST00000635998.1:c.783A>G	ENSP00000490506.1:p.Thr261=
ENST00000636009.1:c.640A>G	ENSP00000489988.1:n.640A>G
ENST00000636033.1:c.*619A>G	ENSP00000489617.1:n.*619A>G
ENST00000636050.1:c.*626A>G	ENSP00000490562.1:n.*626A>G
ENST00000636128.1:c.462A>G	ENSP00000489789.1:p.Thr154=
ENST00000636160.1:c.*675A>G	ENSP00000489651.1:n.*675A>G
ENST00000636171.1:c.726A>G	ENSP00000489761.1:p.Thr242=
ENST00000636455.1:c.831A>G	ENSP00000490502.1:p.Thr277=
ENST00000636494.1:c.*563A>G	ENSP00000490388.1:n.*563A>G
ENST00000636563.1:n.445A>G
ENST00000636577.1:c.723A>G	ENSP00000490027.1:p.Thr241=
ENST00000636691.1:c.588A>G	ENSP00000490725.1:p.Thr196=
ENST00000636701.1:c.*434A>G	ENSP00000489800.1:n.*434A>G
ENST00000636815.1:c.700A>G
ENST00000636920.1:c.*619A>G	ENSP00000490437.1:n.*619A>G
ENST00000636997.1:c.696A>G	ENSP00000490093.1:p.Thr232=
ENST00000637013.1:c.*1151A>G	ENSP00000490596.1:n.*1151A>G
ENST00000637014.1:n.1190A>G
ENST00000637095.1:c.*563A>G	ENSP00000490415.1:n.*563A>G
ENST00000637244.1:c.*1301A>G	ENSP00000490188.1:n.*1301A>G
ENST00000637343.1:n.2220A>G
ENST00000637429.1:c.*995A>G	ENSP00000490522.1:n.*995A>G
ENST00000637484.1:c.*745A>G	ENSP00000490837.1:n.*745A>G
ENST00000637528.1:c.720A>G	ENSP00000490801.1:p.Thr240=
ENST00000637609.1:n.3504A>G
ENST00000637636.1:c.777A>G	ENSP00000490112.1:p.Thr259=
ENST00000637790.2:c.783A>G MANE Select	ENSP00000490272.1:p.Thr261=
ENST00000637857.1:n.1149A>G
ENST00000637922.1:c.588A>G	ENSP00000490071.1:p.Thr196=
ENST00000637991.1:c.756A>G	ENSP00000489901.1:p.Thr252=
ENST00000638028.1:n.1000A>G
ENST00000638069.1:n.1604A>G
ENST00000262097.10:c.783A>G	ENSP00000262097.6:p.Thr261=
ENST00000314146.10:c.765A>G	ENSP00000326970.10:p.Thr255=
ENST00000381733.8:c.831A>G	ENSP00000371152.4:p.Thr277=
ENST00000519468.5:n.612A>G
ENST00000520781.5:c.708A>G	ENSP00000427751.1:p.Thr236=
ENST00000521542.1:n.496A>G
NM_001127505.1:c.765A>G	NP_001120977.1:p.Thr255=
NM_001127505.2:c.765A>G	NP_001120977.1:p.Thr255=
NM_004315.4:c.831A>G	NP_004306.3:p.Thr277=
NM_004315.5:c.831A>G	NP_004306.3:p.Thr277=
NM_177924.3:c.783A>G	NP_808592.2:p.Thr261=
NM_177924.4:c.783A>G	NP_808592.2:p.Thr261=
XM_005273504.2:c.717A>G	XP_005273561.1:p.Thr239=
NM_001363743.1:c.588A>G	NP_001350672.1:p.Thr196=
XM_005273504.3:c.717A>G	XP_005273561.1:p.Thr239=
NM_177924.5:c.783A>G MANE Select	NP_808592.2:p.Thr261=
NM_001127505.3:c.765A>G	NP_001120977.1:p.Thr255=
NM_001363743.2:c.588A>G	NP_001350672.1:p.Thr196=
NM_004315.6:c.831A>G	NP_004306.3:p.Thr277=