Canonical Allele Identifier: CA370429338

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918917G>A (hg19) ; chr8:g.18061408G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061408G>A , CM000670.2:g.18061408G>A	GRCh38
NC_000008.10:g.17918917G>A , CM000670.1:g.17918917G>A	GRCh37
NC_000008.9:g.17963197G>A	NCBI36
NG_008985.1:g.28591C>T
NG_008985.2:g.28591C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.802C>T	ENSP00000371152.4:p.Leu268Phe
ENST00000517409.2:n.722C>T
ENST00000518746.2:n.2440C>T
ENST00000519545.6:n.771C>T
ENST00000520781.6:c.679C>T	ENSP00000427751.1:p.Leu227Phe
ENST00000521542.2:n.62C>T
ENST00000635756.1:c.167C>T
ENST00000635944.1:c.*590C>T	ENSP00000490195.1:n.*590C>T
ENST00000635998.1:c.754C>T	ENSP00000490506.1:p.Leu252Phe
ENST00000636009.1:c.611C>T	ENSP00000489988.1:n.611C>T
ENST00000636033.1:c.*590C>T	ENSP00000489617.1:n.*590C>T
ENST00000636050.1:c.*597C>T	ENSP00000490562.1:n.*597C>T
ENST00000636128.1:c.433C>T	ENSP00000489789.1:p.Leu145Phe
ENST00000636160.1:c.*646C>T	ENSP00000489651.1:n.*646C>T
ENST00000636171.1:c.697C>T	ENSP00000489761.1:p.Leu233Phe
ENST00000636455.1:c.802C>T	ENSP00000490502.1:p.Leu268Phe
ENST00000636494.1:c.*534C>T	ENSP00000490388.1:n.*534C>T
ENST00000636563.1:n.416C>T
ENST00000636577.1:c.694C>T	ENSP00000490027.1:p.Leu232Phe
ENST00000636691.1:c.559C>T	ENSP00000490725.1:p.Leu187Phe
ENST00000636701.1:c.*405C>T	ENSP00000489800.1:n.*405C>T
ENST00000636815.1:c.671C>T
ENST00000636920.1:c.*590C>T	ENSP00000490437.1:n.*590C>T
ENST00000636997.1:c.667C>T	ENSP00000490093.1:p.Leu223Phe
ENST00000637013.1:c.*1122C>T	ENSP00000490596.1:n.*1122C>T
ENST00000637014.1:n.1161C>T
ENST00000637095.1:c.*534C>T	ENSP00000490415.1:n.*534C>T
ENST00000637244.1:c.*1272C>T	ENSP00000490188.1:n.*1272C>T
ENST00000637343.1:n.2191C>T
ENST00000637429.1:c.*966C>T	ENSP00000490522.1:n.*966C>T
ENST00000637484.1:c.*716C>T	ENSP00000490837.1:n.*716C>T
ENST00000637528.1:c.691C>T	ENSP00000490801.1:p.Leu231Phe
ENST00000637609.1:n.3475C>T
ENST00000637636.1:c.748C>T	ENSP00000490112.1:p.Leu250Phe
ENST00000637790.2:c.754C>T MANE Select	ENSP00000490272.1:p.Leu252Phe
ENST00000637857.1:n.1120C>T
ENST00000637922.1:c.559C>T	ENSP00000490071.1:p.Leu187Phe
ENST00000637991.1:c.727C>T	ENSP00000489901.1:p.Leu243Phe
ENST00000638028.1:n.971C>T
ENST00000638069.1:n.1575C>T
ENST00000262097.10:c.754C>T	ENSP00000262097.6:p.Leu252Phe
ENST00000314146.10:c.736C>T	ENSP00000326970.10:p.Leu246Phe
ENST00000381733.8:c.802C>T	ENSP00000371152.4:p.Leu268Phe
ENST00000518746.1:n.571C>T
ENST00000519468.5:n.583C>T
ENST00000520781.5:c.679C>T	ENSP00000427751.1:p.Leu227Phe
ENST00000521542.1:n.467C>T
NM_001127505.1:c.736C>T	NP_001120977.1:p.Leu246Phe
NM_001127505.2:c.736C>T	NP_001120977.1:p.Leu246Phe
NM_004315.4:c.802C>T	NP_004306.3:p.Leu268Phe
NM_004315.5:c.802C>T	NP_004306.3:p.Leu268Phe
NM_177924.3:c.754C>T	NP_808592.2:p.Leu252Phe
NM_177924.4:c.754C>T	NP_808592.2:p.Leu252Phe
XM_005273504.2:c.688C>T	XP_005273561.1:p.Leu230Phe
NM_001363743.1:c.559C>T	NP_001350672.1:p.Leu187Phe
XM_005273504.3:c.688C>T	XP_005273561.1:p.Leu230Phe
NM_177924.5:c.754C>T MANE Select	NP_808592.2:p.Leu252Phe
NM_001127505.3:c.736C>T	NP_001120977.1:p.Leu246Phe
NM_001363743.2:c.559C>T	NP_001350672.1:p.Leu187Phe
NM_004315.6:c.802C>T	NP_004306.3:p.Leu268Phe