Canonical Allele Identifier: CA370429370

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918926T>G (hg19) ; chr8:g.18061417T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061417T>G , CM000670.2:g.18061417T>G	GRCh38
NC_000008.10:g.17918926T>G , CM000670.1:g.17918926T>G	GRCh37
NC_000008.9:g.17963206T>G	NCBI36
NG_008985.1:g.28582A>C
NG_008985.2:g.28582A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.793A>C	ENSP00000371152.4:p.Ile265Leu
ENST00000517409.2:n.713A>C
ENST00000518746.2:n.2431A>C
ENST00000519545.6:n.762A>C
ENST00000520781.6:c.670A>C	ENSP00000427751.1:p.Ile224Leu
ENST00000521542.2:n.53A>C
ENST00000635756.1:c.158A>C
ENST00000635944.1:c.*581A>C	ENSP00000490195.1:n.*581A>C
ENST00000635998.1:c.745A>C	ENSP00000490506.1:p.Ile249Leu
ENST00000636009.1:c.602A>C	ENSP00000489988.1:n.602A>C
ENST00000636033.1:c.*581A>C	ENSP00000489617.1:n.*581A>C
ENST00000636050.1:c.*588A>C	ENSP00000490562.1:n.*588A>C
ENST00000636128.1:c.424A>C	ENSP00000489789.1:p.Ile142Leu
ENST00000636160.1:c.*637A>C	ENSP00000489651.1:n.*637A>C
ENST00000636171.1:c.688A>C	ENSP00000489761.1:p.Ile230Leu
ENST00000636455.1:c.793A>C	ENSP00000490502.1:p.Ile265Leu
ENST00000636494.1:c.*525A>C	ENSP00000490388.1:n.*525A>C
ENST00000636563.1:n.407A>C
ENST00000636577.1:c.685A>C	ENSP00000490027.1:p.Ile229Leu
ENST00000636691.1:c.550A>C	ENSP00000490725.1:p.Ile184Leu
ENST00000636701.1:c.*396A>C	ENSP00000489800.1:n.*396A>C
ENST00000636815.1:c.662A>C
ENST00000636920.1:c.*581A>C	ENSP00000490437.1:n.*581A>C
ENST00000636997.1:c.658A>C	ENSP00000490093.1:p.Ile220Leu
ENST00000637013.1:c.*1113A>C	ENSP00000490596.1:n.*1113A>C
ENST00000637014.1:n.1152A>C
ENST00000637095.1:c.*525A>C	ENSP00000490415.1:n.*525A>C
ENST00000637244.1:c.*1263A>C	ENSP00000490188.1:n.*1263A>C
ENST00000637343.1:n.2182A>C
ENST00000637429.1:c.*957A>C	ENSP00000490522.1:n.*957A>C
ENST00000637484.1:c.*707A>C	ENSP00000490837.1:n.*707A>C
ENST00000637528.1:c.682A>C	ENSP00000490801.1:p.Ile228Leu
ENST00000637609.1:n.3466A>C
ENST00000637636.1:c.739A>C	ENSP00000490112.1:p.Ile247Leu
ENST00000637790.2:c.745A>C MANE Select	ENSP00000490272.1:p.Ile249Leu
ENST00000637857.1:n.1111A>C
ENST00000637922.1:c.550A>C	ENSP00000490071.1:p.Ile184Leu
ENST00000637991.1:c.718A>C	ENSP00000489901.1:p.Ile240Leu
ENST00000638028.1:n.962A>C
ENST00000638069.1:n.1566A>C
ENST00000262097.10:c.745A>C	ENSP00000262097.6:p.Ile249Leu
ENST00000314146.10:c.727A>C	ENSP00000326970.10:p.Ile243Leu
ENST00000381733.8:c.793A>C	ENSP00000371152.4:p.Ile265Leu
ENST00000518746.1:n.562A>C
ENST00000519468.5:n.574A>C
ENST00000520781.5:c.670A>C	ENSP00000427751.1:p.Ile224Leu
ENST00000521542.1:n.458A>C
NM_001127505.1:c.727A>C	NP_001120977.1:p.Ile243Leu
NM_001127505.2:c.727A>C	NP_001120977.1:p.Ile243Leu
NM_004315.4:c.793A>C	NP_004306.3:p.Ile265Leu
NM_004315.5:c.793A>C	NP_004306.3:p.Ile265Leu
NM_177924.3:c.745A>C	NP_808592.2:p.Ile249Leu
NM_177924.4:c.745A>C	NP_808592.2:p.Ile249Leu
XM_005273504.2:c.679A>C	XP_005273561.1:p.Ile227Leu
NM_001363743.1:c.550A>C	NP_001350672.1:p.Ile184Leu
XM_005273504.3:c.679A>C	XP_005273561.1:p.Ile227Leu
NM_177924.5:c.745A>C MANE Select	NP_808592.2:p.Ile249Leu
NM_001127505.3:c.727A>C	NP_001120977.1:p.Ile243Leu
NM_001363743.2:c.550A>C	NP_001350672.1:p.Ile184Leu
NM_004315.6:c.793A>C	NP_004306.3:p.Ile265Leu