Canonical Allele Identifier: CA370429327

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918914T>A (hg19) ; chr8:g.18061405T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061405T>A , CM000670.2:g.18061405T>A	GRCh38
NC_000008.10:g.17918914T>A , CM000670.1:g.17918914T>A	GRCh37
NC_000008.9:g.17963194T>A	NCBI36
NG_008985.1:g.28594A>T
NG_008985.2:g.28594A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.805A>T	ENSP00000371152.4:p.Thr269Ser
ENST00000517409.2:n.725A>T
ENST00000518746.2:n.2443A>T
ENST00000520781.6:c.682A>T	ENSP00000427751.1:p.Thr228Ser
ENST00000521542.2:n.65A>T
ENST00000635756.1:c.170A>T
ENST00000635944.1:c.*593A>T	ENSP00000490195.1:n.*593A>T
ENST00000635998.1:c.757A>T	ENSP00000490506.1:p.Thr253Ser
ENST00000636009.1:c.614A>T	ENSP00000489988.1:n.614A>T
ENST00000636033.1:c.*593A>T	ENSP00000489617.1:n.*593A>T
ENST00000636050.1:c.*600A>T	ENSP00000490562.1:n.*600A>T
ENST00000636128.1:c.436A>T	ENSP00000489789.1:p.Thr146Ser
ENST00000636160.1:c.*649A>T	ENSP00000489651.1:n.*649A>T
ENST00000636171.1:c.700A>T	ENSP00000489761.1:p.Thr234Ser
ENST00000636455.1:c.805A>T	ENSP00000490502.1:p.Thr269Ser
ENST00000636494.1:c.*537A>T	ENSP00000490388.1:n.*537A>T
ENST00000636563.1:n.419A>T
ENST00000636577.1:c.697A>T	ENSP00000490027.1:p.Thr233Ser
ENST00000636691.1:c.562A>T	ENSP00000490725.1:p.Thr188Ser
ENST00000636701.1:c.*408A>T	ENSP00000489800.1:n.*408A>T
ENST00000636815.1:c.674A>T
ENST00000636920.1:c.*593A>T	ENSP00000490437.1:n.*593A>T
ENST00000636997.1:c.670A>T	ENSP00000490093.1:p.Thr224Ser
ENST00000637013.1:c.*1125A>T	ENSP00000490596.1:n.*1125A>T
ENST00000637014.1:n.1164A>T
ENST00000637095.1:c.*537A>T	ENSP00000490415.1:n.*537A>T
ENST00000637244.1:c.*1275A>T	ENSP00000490188.1:n.*1275A>T
ENST00000637343.1:n.2194A>T
ENST00000637429.1:c.*969A>T	ENSP00000490522.1:n.*969A>T
ENST00000637484.1:c.*719A>T	ENSP00000490837.1:n.*719A>T
ENST00000637528.1:c.694A>T	ENSP00000490801.1:p.Thr232Ser
ENST00000637609.1:n.3478A>T
ENST00000637636.1:c.751A>T	ENSP00000490112.1:p.Thr251Ser
ENST00000637790.2:c.757A>T MANE Select	ENSP00000490272.1:p.Thr253Ser
ENST00000637857.1:n.1123A>T
ENST00000637922.1:c.562A>T	ENSP00000490071.1:p.Thr188Ser
ENST00000637991.1:c.730A>T	ENSP00000489901.1:p.Thr244Ser
ENST00000638028.1:n.974A>T
ENST00000638069.1:n.1578A>T
ENST00000262097.10:c.757A>T	ENSP00000262097.6:p.Thr253Ser
ENST00000314146.10:c.739A>T	ENSP00000326970.10:p.Thr247Ser
ENST00000381733.8:c.805A>T	ENSP00000371152.4:p.Thr269Ser
ENST00000518746.1:n.574A>T
ENST00000519468.5:n.586A>T
ENST00000520781.5:c.682A>T	ENSP00000427751.1:p.Thr228Ser
ENST00000521542.1:n.470A>T
NM_001127505.1:c.739A>T	NP_001120977.1:p.Thr247Ser
NM_001127505.2:c.739A>T	NP_001120977.1:p.Thr247Ser
NM_004315.4:c.805A>T	NP_004306.3:p.Thr269Ser
NM_004315.5:c.805A>T	NP_004306.3:p.Thr269Ser
NM_177924.3:c.757A>T	NP_808592.2:p.Thr253Ser
NM_177924.4:c.757A>T	NP_808592.2:p.Thr253Ser
XM_005273504.2:c.691A>T	XP_005273561.1:p.Thr231Ser
NM_001363743.1:c.562A>T	NP_001350672.1:p.Thr188Ser
XM_005273504.3:c.691A>T	XP_005273561.1:p.Thr231Ser
NM_177924.5:c.757A>T MANE Select	NP_808592.2:p.Thr253Ser
NM_001127505.3:c.739A>T	NP_001120977.1:p.Thr247Ser
NM_001363743.2:c.562A>T	NP_001350672.1:p.Thr188Ser
NM_004315.6:c.805A>T	NP_004306.3:p.Thr269Ser