Canonical Allele Identifier: CA370429315

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918910C>A (hg19) ; chr8:g.18061401C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061401C>A , CM000670.2:g.18061401C>A	GRCh38
NC_000008.10:g.17918910C>A , CM000670.1:g.17918910C>A	GRCh37
NC_000008.9:g.17963190C>A	NCBI36
NG_008985.1:g.28598G>T
NG_008985.2:g.28598G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.809G>T	ENSP00000371152.4:p.Arg270Ile
ENST00000517409.2:n.729G>T
ENST00000518746.2:n.2447G>T
ENST00000520781.6:c.686G>T	ENSP00000427751.1:p.Arg229Ile
ENST00000521542.2:n.69G>T
ENST00000635756.1:c.174G>T
ENST00000635944.1:c.*597G>T	ENSP00000490195.1:n.*597G>T
ENST00000635998.1:c.761G>T	ENSP00000490506.1:p.Arg254Ile
ENST00000636009.1:c.618G>T	ENSP00000489988.1:n.618G>T
ENST00000636033.1:c.*597G>T	ENSP00000489617.1:n.*597G>T
ENST00000636050.1:c.*604G>T	ENSP00000490562.1:n.*604G>T
ENST00000636128.1:c.440G>T	ENSP00000489789.1:p.Arg147Ile
ENST00000636160.1:c.*653G>T	ENSP00000489651.1:n.*653G>T
ENST00000636171.1:c.704G>T	ENSP00000489761.1:p.Arg235Ile
ENST00000636455.1:c.809G>T	ENSP00000490502.1:p.Arg270Ile
ENST00000636494.1:c.*541G>T	ENSP00000490388.1:n.*541G>T
ENST00000636563.1:n.423G>T
ENST00000636577.1:c.701G>T	ENSP00000490027.1:p.Arg234Ile
ENST00000636691.1:c.566G>T	ENSP00000490725.1:p.Arg189Ile
ENST00000636701.1:c.*412G>T	ENSP00000489800.1:n.*412G>T
ENST00000636815.1:c.678G>T
ENST00000636920.1:c.*597G>T	ENSP00000490437.1:n.*597G>T
ENST00000636997.1:c.674G>T	ENSP00000490093.1:p.Arg225Ile
ENST00000637013.1:c.*1129G>T	ENSP00000490596.1:n.*1129G>T
ENST00000637014.1:n.1168G>T
ENST00000637095.1:c.*541G>T	ENSP00000490415.1:n.*541G>T
ENST00000637244.1:c.*1279G>T	ENSP00000490188.1:n.*1279G>T
ENST00000637343.1:n.2198G>T
ENST00000637429.1:c.*973G>T	ENSP00000490522.1:n.*973G>T
ENST00000637484.1:c.*723G>T	ENSP00000490837.1:n.*723G>T
ENST00000637528.1:c.698G>T	ENSP00000490801.1:p.Arg233Ile
ENST00000637609.1:n.3482G>T
ENST00000637636.1:c.755G>T	ENSP00000490112.1:p.Arg252Ile
ENST00000637790.2:c.761G>T MANE Select	ENSP00000490272.1:p.Arg254Ile
ENST00000637857.1:n.1127G>T
ENST00000637922.1:c.566G>T	ENSP00000490071.1:p.Arg189Ile
ENST00000637991.1:c.734G>T	ENSP00000489901.1:p.Arg245Ile
ENST00000638028.1:n.978G>T
ENST00000638069.1:n.1582G>T
ENST00000262097.10:c.761G>T	ENSP00000262097.6:p.Arg254Ile
ENST00000314146.10:c.743G>T	ENSP00000326970.10:p.Arg248Ile
ENST00000381733.8:c.809G>T	ENSP00000371152.4:p.Arg270Ile
ENST00000518746.1:n.578G>T
ENST00000519468.5:n.590G>T
ENST00000520781.5:c.686G>T	ENSP00000427751.1:p.Arg229Ile
ENST00000521542.1:n.474G>T
NM_001127505.1:c.743G>T	NP_001120977.1:p.Arg248Ile
NM_001127505.2:c.743G>T	NP_001120977.1:p.Arg248Ile
NM_004315.4:c.809G>T	NP_004306.3:p.Arg270Ile
NM_004315.5:c.809G>T	NP_004306.3:p.Arg270Ile
NM_177924.3:c.761G>T	NP_808592.2:p.Arg254Ile
NM_177924.4:c.761G>T	NP_808592.2:p.Arg254Ile
XM_005273504.2:c.695G>T	XP_005273561.1:p.Arg232Ile
NM_001363743.1:c.566G>T	NP_001350672.1:p.Arg189Ile
XM_005273504.3:c.695G>T	XP_005273561.1:p.Arg232Ile
NM_177924.5:c.761G>T MANE Select	NP_808592.2:p.Arg254Ile
NM_001127505.3:c.743G>T	NP_001120977.1:p.Arg248Ile
NM_001363743.2:c.566G>T	NP_001350672.1:p.Arg189Ile
NM_004315.6:c.809G>T	NP_004306.3:p.Arg270Ile