Canonical Allele Identifier: CA370428467

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18059704C>A , CM000670.2:g.18059704C>A	GRCh38
NC_000008.10:g.17917213C>A , CM000670.1:g.17917213C>A	GRCh37
NC_000008.9:g.17961493C>A	NCBI36
NG_008985.1:g.30295G>T
NG_008985.2:g.30295G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.786-1G>T MANE Select	NP_808592.2:n.786-1G>T
ENST00000637790.2:c.786-1G>T MANE Select	ENSP00000490272.1:n.786-1G>T
NM_001127505.1:c.768-1G>T	NP_001120977.1:n.768-1G>T
NM_001127505.2:c.768-1G>T	NP_001120977.1:n.768-1G>T
NM_001127505.3:c.768-1G>T	NP_001120977.1:n.768-1G>T
NM_001363743.1:c.591-1G>T	NP_001350672.1:n.591-1G>T
NM_001363743.2:c.591-1G>T	NP_001350672.1:n.591-1G>T
NM_004315.4:c.834-1G>T	NP_004306.3:n.834-1G>T
NM_004315.5:c.834-1G>T	NP_004306.3:n.834-1G>T
NM_004315.6:c.834-1G>T	NP_004306.3:n.834-1G>T
NM_177924.3:c.786-1G>T	NP_808592.2:n.786-1G>T
NM_177924.4:c.786-1G>T	NP_808592.2:n.786-1G>T
ENST00000262097.10:c.786-1G>T	ENSP00000262097.6:n.786-1G>T
ENST00000314146.10:c.768-1G>T	ENSP00000326970.10:n.768-1G>T
ENST00000381733.8:c.834-1G>T	ENSP00000371152.4:n.834-1G>T
ENST00000381733.9:c.834-1G>T	ENSP00000371152.4:n.834-1G>T
ENST00000518746.2:n.2472-1G>T
ENST00000519468.5:n.615-1G>T
ENST00000520781.5:c.711-1G>T	ENSP00000427751.1:n.711-1G>T
ENST00000520781.6:c.711-1G>T	ENSP00000427751.1:n.711-1G>T
ENST00000521542.1:n.499-1G>T
ENST00000521542.2:n.1766G>T
ENST00000635756.1:c.199-1G>T
ENST00000635944.1:c.*622-1G>T	ENSP00000490195.1:n.*622-1G>T
ENST00000635998.1:c.786-1G>T	ENSP00000490506.1:n.786-1G>T
ENST00000636009.1:c.643-1G>T	ENSP00000489988.1:n.643-1G>T
ENST00000636033.1:c.*622-1G>T	ENSP00000489617.1:n.*622-1G>T
ENST00000636050.1:c.*629-1G>T	ENSP00000490562.1:n.*629-1G>T
ENST00000636128.1:c.465-1G>T	ENSP00000489789.1:n.465-1G>T
ENST00000636160.1:c.*678-1G>T	ENSP00000489651.1:n.*678-1G>T
ENST00000636171.1:c.729-1G>T	ENSP00000489761.1:n.729-1G>T
ENST00000636455.1:c.834-1G>T	ENSP00000490502.1:n.834-1G>T
ENST00000636494.1:c.*566-1G>T	ENSP00000490388.1:n.*566-1G>T
ENST00000636563.1:n.448-1G>T
ENST00000636577.1:c.726-1G>T	ENSP00000490027.1:n.726-1G>T
ENST00000636691.1:c.591-1G>T	ENSP00000490725.1:n.591-1G>T
ENST00000636701.1:c.*437-1G>T	ENSP00000489800.1:n.*437-1G>T
ENST00000636815.1:c.703-1G>T
ENST00000636920.1:c.*622-1G>T	ENSP00000490437.1:n.*622-1G>T
ENST00000636997.1:c.699-1G>T	ENSP00000490093.1:n.699-1G>T
ENST00000637013.1:c.*1154-1G>T	ENSP00000490596.1:n.*1154-1G>T
ENST00000637014.1:n.1193-1G>T
ENST00000637095.1:c.*566-1G>T	ENSP00000490415.1:n.*566-1G>T
ENST00000637244.1:c.*1304-1G>T	ENSP00000490188.1:n.*1304-1G>T
ENST00000637343.1:n.2223-1G>T
ENST00000637429.1:c.*998-1G>T	ENSP00000490522.1:n.*998-1G>T
ENST00000637484.1:c.*748-1G>T	ENSP00000490837.1:n.*748-1G>T
ENST00000637528.1:c.723-1G>T	ENSP00000490801.1:n.723-1G>T
ENST00000637609.1:n.3507-1G>T
ENST00000637636.1:c.780-1G>T	ENSP00000490112.1:n.780-1G>T
ENST00000637857.1:n.1152-1G>T
ENST00000637922.1:c.591-1G>T	ENSP00000490071.1:n.591-1G>T
ENST00000637991.1:c.759-1G>T	ENSP00000489901.1:n.759-1G>T
ENST00000638028.1:n.1003-1G>T
ENST00000638069.1:n.1607-1G>T
XM_005273504.2:c.720-1G>T	XP_005273561.1:n.720-1G>T
XM_005273504.3:c.720-1G>T	XP_005273561.1:n.720-1G>T