Canonical Allele Identifier: CA370430268

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18062409T>A , CM000670.2:g.18062409T>A	GRCh38
NC_000008.10:g.17919918T>A , CM000670.1:g.17919918T>A	GRCh37
NC_000008.9:g.17964198T>A	NCBI36
NG_008985.1:g.27590A>T
NG_008985.2:g.27590A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.518A>T MANE Select	NP_808592.2:p.Asn173Ile
ENST00000637790.2:c.518A>T MANE Select	ENSP00000490272.1:p.Asn173Ile
NM_001127505.1:c.500A>T	NP_001120977.1:p.Asn167Ile
NM_001127505.2:c.500A>T	NP_001120977.1:p.Asn167Ile
NM_001127505.3:c.500A>T	NP_001120977.1:p.Asn167Ile
NM_001363743.1:c.323A>T	NP_001350672.1:p.Asn108Ile
NM_001363743.2:c.323A>T	NP_001350672.1:p.Asn108Ile
NM_004315.4:c.566A>T	NP_004306.3:p.Asn189Ile
NM_004315.5:c.566A>T	NP_004306.3:p.Asn189Ile
NM_004315.6:c.566A>T	NP_004306.3:p.Asn189Ile
NM_177924.3:c.518A>T	NP_808592.2:p.Asn173Ile
NM_177924.4:c.518A>T	NP_808592.2:p.Asn173Ile
ENST00000262097.10:c.518A>T	ENSP00000262097.6:p.Asn173Ile
ENST00000314146.10:c.500A>T	ENSP00000326970.10:p.Asn167Ile
ENST00000381733.8:c.566A>T	ENSP00000371152.4:p.Asn189Ile
ENST00000381733.9:c.566A>T	ENSP00000371152.4:p.Asn189Ile
ENST00000517409.1:n.455A>T
ENST00000517409.2:n.455A>T
ENST00000518746.2:n.1439A>T
ENST00000519468.5:n.389-42A>T
ENST00000519545.5:n.532A>T
ENST00000519545.6:n.535A>T
ENST00000520781.5:c.443A>T	ENSP00000427751.1:p.Asn148Ile
ENST00000520781.6:c.443A>T	ENSP00000427751.1:p.Asn148Ile
ENST00000523593.5:n.371A>T
ENST00000523593.6:c.*361A>T	ENSP00000490700.1:n.*361A>T
ENST00000635769.1:c.539A>T	ENSP00000490485.1:p.Asn180Ile
ENST00000635944.1:c.*354A>T	ENSP00000490195.1:n.*354A>T
ENST00000635998.1:c.518A>T	ENSP00000490506.1:p.Asn173Ile
ENST00000636009.1:c.375A>T	ENSP00000489988.1:n.375A>T
ENST00000636033.1:c.*354A>T	ENSP00000489617.1:n.*354A>T
ENST00000636050.1:c.*361A>T	ENSP00000490562.1:n.*361A>T
ENST00000636128.1:c.383-951A>T	ENSP00000489789.1:n.383-951A>T
ENST00000636160.1:c.*410A>T	ENSP00000489651.1:n.*410A>T
ENST00000636171.1:c.461A>T	ENSP00000489761.1:p.Asn154Ile
ENST00000636299.1:c.*289A>T	ENSP00000490202.1:n.*289A>T
ENST00000636455.1:c.566A>T	ENSP00000490502.1:p.Asn189Ile
ENST00000636494.1:c.*298A>T	ENSP00000490388.1:n.*298A>T
ENST00000636563.1:n.180A>T
ENST00000636577.1:c.458A>T	ENSP00000490027.1:p.Asn153Ile
ENST00000636691.1:c.323A>T	ENSP00000490725.1:p.Asn108Ile
ENST00000636701.1:c.*169A>T	ENSP00000489800.1:n.*169A>T
ENST00000636719.1:n.312A>T
ENST00000636815.1:c.435A>T
ENST00000636823.1:c.323A>T	ENSP00000490798.1:p.Asn108Ile
ENST00000636920.1:c.*354A>T	ENSP00000490437.1:n.*354A>T
ENST00000636997.1:c.431A>T	ENSP00000490093.1:p.Asn144Ile
ENST00000637013.1:c.*886A>T	ENSP00000490596.1:n.*886A>T
ENST00000637014.1:n.387A>T
ENST00000637095.1:c.*298A>T	ENSP00000490415.1:n.*298A>T
ENST00000637244.1:c.*1036A>T	ENSP00000490188.1:n.*1036A>T
ENST00000637343.1:n.1955A>T
ENST00000637429.1:c.*730A>T	ENSP00000490522.1:n.*730A>T
ENST00000637484.1:c.*480A>T	ENSP00000490837.1:n.*480A>T
ENST00000637528.1:c.455A>T	ENSP00000490801.1:p.Asn152Ile
ENST00000637603.1:c.488A>T	ENSP00000489979.1:p.Asn163Ile
ENST00000637609.1:n.3239A>T
ENST00000637636.1:c.512A>T	ENSP00000490112.1:p.Asn171Ile
ENST00000637718.1:c.323A>T	ENSP00000490133.1:p.Asn108Ile
ENST00000637857.1:n.119A>T
ENST00000637922.1:c.323A>T	ENSP00000490071.1:p.Asn108Ile
ENST00000637991.1:c.491A>T	ENSP00000489901.1:p.Asn164Ile
ENST00000638028.1:n.735A>T
ENST00000638069.1:n.574A>T
XM_005273504.2:c.452A>T	XP_005273561.1:p.Asn151Ile
XM_005273504.3:c.452A>T	XP_005273561.1:p.Asn151Ile