Canonical Allele Identifier: CA4650789

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18062391G>A , CM000670.2:g.18062391G>A	GRCh38
NC_000008.10:g.17919900G>A , CM000670.1:g.17919900G>A	GRCh37
NC_000008.9:g.17964180G>A	NCBI36
NG_008985.1:g.27608C>T
NG_008985.2:g.27608C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.536C>T MANE Select	NP_808592.2:p.Thr179Ile
ENST00000637790.2:c.536C>T MANE Select	ENSP00000490272.1:p.Thr179Ile
NM_001127505.1:c.518C>T	NP_001120977.1:p.Thr173Ile
NM_001127505.2:c.518C>T	NP_001120977.1:p.Thr173Ile
NM_001127505.3:c.518C>T	NP_001120977.1:p.Thr173Ile
NM_001363743.1:c.341C>T	NP_001350672.1:p.Thr114Ile
NM_001363743.2:c.341C>T	NP_001350672.1:p.Thr114Ile
NM_004315.4:c.584C>T	NP_004306.3:p.Thr195Ile
NM_004315.5:c.584C>T	NP_004306.3:p.Thr195Ile
NM_004315.6:c.584C>T	NP_004306.3:p.Thr195Ile
NM_177924.3:c.536C>T	NP_808592.2:p.Thr179Ile
NM_177924.4:c.536C>T	NP_808592.2:p.Thr179Ile
ENST00000262097.10:c.536C>T	ENSP00000262097.6:p.Thr179Ile
ENST00000314146.10:c.518C>T	ENSP00000326970.10:p.Thr173Ile
ENST00000381733.8:c.584C>T	ENSP00000371152.4:p.Thr195Ile
ENST00000381733.9:c.584C>T	ENSP00000371152.4:p.Thr195Ile
ENST00000517409.1:n.473C>T
ENST00000517409.2:n.473C>T
ENST00000518746.2:n.1457C>T
ENST00000519468.5:n.389-24C>T
ENST00000519545.5:n.550C>T
ENST00000519545.6:n.553C>T
ENST00000520781.5:c.461C>T	ENSP00000427751.1:p.Thr154Ile
ENST00000520781.6:c.461C>T	ENSP00000427751.1:p.Thr154Ile
ENST00000523593.5:n.389C>T
ENST00000523593.6:c.*379C>T	ENSP00000490700.1:n.*379C>T
ENST00000635944.1:c.*372C>T	ENSP00000490195.1:n.*372C>T
ENST00000635998.1:c.536C>T	ENSP00000490506.1:p.Thr179Ile
ENST00000636009.1:c.393C>T	ENSP00000489988.1:n.393C>T
ENST00000636033.1:c.*372C>T	ENSP00000489617.1:n.*372C>T
ENST00000636050.1:c.*379C>T	ENSP00000490562.1:n.*379C>T
ENST00000636128.1:c.383-933C>T	ENSP00000489789.1:n.383-933C>T
ENST00000636160.1:c.*428C>T	ENSP00000489651.1:n.*428C>T
ENST00000636171.1:c.479C>T	ENSP00000489761.1:p.Thr160Ile
ENST00000636299.1:c.*307C>T	ENSP00000490202.1:n.*307C>T
ENST00000636455.1:c.584C>T	ENSP00000490502.1:p.Thr195Ile
ENST00000636494.1:c.*316C>T	ENSP00000490388.1:n.*316C>T
ENST00000636563.1:n.198C>T
ENST00000636577.1:c.476C>T	ENSP00000490027.1:p.Thr159Ile
ENST00000636691.1:c.341C>T	ENSP00000490725.1:p.Thr114Ile
ENST00000636701.1:c.*187C>T	ENSP00000489800.1:n.*187C>T
ENST00000636719.1:n.330C>T
ENST00000636815.1:c.453C>T
ENST00000636823.1:c.341C>T	ENSP00000490798.1:p.Thr114Ile
ENST00000636920.1:c.*372C>T	ENSP00000490437.1:n.*372C>T
ENST00000636997.1:c.449C>T	ENSP00000490093.1:p.Thr150Ile
ENST00000637013.1:c.*904C>T	ENSP00000490596.1:n.*904C>T
ENST00000637014.1:n.405C>T
ENST00000637095.1:c.*316C>T	ENSP00000490415.1:n.*316C>T
ENST00000637244.1:c.*1054C>T	ENSP00000490188.1:n.*1054C>T
ENST00000637343.1:n.1973C>T
ENST00000637429.1:c.*748C>T	ENSP00000490522.1:n.*748C>T
ENST00000637484.1:c.*498C>T	ENSP00000490837.1:n.*498C>T
ENST00000637528.1:c.473C>T	ENSP00000490801.1:p.Thr158Ile
ENST00000637603.1:c.506C>T	ENSP00000489979.1:p.Thr169Ile
ENST00000637609.1:n.3257C>T
ENST00000637636.1:c.530C>T	ENSP00000490112.1:p.Thr177Ile
ENST00000637718.1:c.341C>T	ENSP00000490133.1:p.Thr114Ile
ENST00000637857.1:n.137C>T
ENST00000637922.1:c.341C>T	ENSP00000490071.1:p.Thr114Ile
ENST00000637991.1:c.509C>T	ENSP00000489901.1:p.Thr170Ile
ENST00000638028.1:n.753C>T
ENST00000638069.1:n.592C>T
XM_005273504.2:c.470C>T	XP_005273561.1:p.Thr157Ile
XM_005273504.3:c.470C>T	XP_005273561.1:p.Thr157Ile