Canonical Allele Identifier: CA1768020090

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061475C= , CM000670.2:g.18061475C=	GRCh38
NC_000008.10:g.17918984C= , CM000670.1:g.17918984C=	GRCh37
NC_000008.9:g.17963264C=	NCBI36
NG_008985.1:g.28524G=
NG_008985.2:g.28524G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.752-17G=	ENSP00000371152.4:n.752-17G=
ENST00000517409.2:n.672-17G=
ENST00000518746.2:n.2373G=
ENST00000519545.6:n.721-17G=
ENST00000520781.6:c.629-17G=	ENSP00000427751.1:n.629-17G=
ENST00000521542.2:n.12-17G=
ENST00000635756.1:c.126-26G=
ENST00000635944.1:c.*540-17G=	ENSP00000490195.1:n.*540-17G=
ENST00000635998.1:c.704-17G=	ENSP00000490506.1:n.704-17G=
ENST00000636009.1:c.561-17G=	ENSP00000489988.1:n.561-17G=
ENST00000636033.1:c.*540-17G=	ENSP00000489617.1:n.*540-17G=
ENST00000636050.1:c.*547-17G=	ENSP00000490562.1:n.*547-17G=
ENST00000636128.1:c.383-17G=	ENSP00000489789.1:n.383-17G=
ENST00000636160.1:c.*596-17G=	ENSP00000489651.1:n.*596-17G=
ENST00000636171.1:c.647-17G=	ENSP00000489761.1:n.647-17G=
ENST00000636455.1:c.752-17G=	ENSP00000490502.1:n.752-17G=
ENST00000636494.1:c.*484-17G=	ENSP00000490388.1:n.*484-17G=
ENST00000636563.1:n.366-17G=
ENST00000636577.1:c.644-17G=	ENSP00000490027.1:n.644-17G=
ENST00000636691.1:c.509-17G=	ENSP00000490725.1:n.509-17G=
ENST00000636701.1:c.*355-17G=	ENSP00000489800.1:n.*355-17G=
ENST00000636815.1:c.621-17G=
ENST00000636920.1:c.*540-17G=	ENSP00000490437.1:n.*540-17G=
ENST00000636997.1:c.617-17G=	ENSP00000490093.1:n.617-17G=
ENST00000637013.1:c.*1072-17G=	ENSP00000490596.1:n.*1072-17G=
ENST00000637014.1:n.1111-17G=
ENST00000637095.1:c.*484-17G=	ENSP00000490415.1:n.*484-17G=
ENST00000637244.1:c.*1222-17G=	ENSP00000490188.1:n.*1222-17G=
ENST00000637343.1:n.2141-17G=
ENST00000637429.1:c.*916-17G=	ENSP00000490522.1:n.*916-17G=
ENST00000637484.1:c.*666-17G=	ENSP00000490837.1:n.*666-17G=
ENST00000637528.1:c.641-17G=	ENSP00000490801.1:n.641-17G=
ENST00000637609.1:n.3425-17G=
ENST00000637636.1:c.698-17G=	ENSP00000490112.1:n.698-17G=
ENST00000637790.2:c.704-17G= MANE Select	ENSP00000490272.1:n.704-17G=
ENST00000637857.1:n.1053G=
ENST00000637922.1:c.509-17G=	ENSP00000490071.1:n.509-17G=
ENST00000637991.1:c.677-17G=	ENSP00000489901.1:n.677-17G=
ENST00000638028.1:n.921-17G=
ENST00000638069.1:n.1508G=
ENST00000262097.10:c.704-17G=	ENSP00000262097.6:n.704-17G=
ENST00000314146.10:c.686-17G=	ENSP00000326970.10:n.686-17G=
ENST00000381733.8:c.752-17G=	ENSP00000371152.4:n.752-17G=
ENST00000518746.1:n.521-17G=
ENST00000519468.5:n.533-17G=
ENST00000520781.5:c.629-17G=	ENSP00000427751.1:n.629-17G=
ENST00000521542.1:n.400G=
NM_001127505.1:c.686-17G=	NP_001120977.1:n.686-17G=
NM_001127505.2:c.686-17G=	NP_001120977.1:n.686-17G=
NM_004315.4:c.752-17G=	NP_004306.3:n.752-17G=
NM_004315.5:c.752-17G=	NP_004306.3:n.752-17G=
NM_177924.3:c.704-17G=	NP_808592.2:n.704-17G=
NM_177924.4:c.704-17G=	NP_808592.2:n.704-17G=
XM_005273504.2:c.638-17G=	XP_005273561.1:n.638-17G=
NM_001363743.1:c.509-17G=	NP_001350672.1:n.509-17G=
XM_005273504.3:c.638-17G=	XP_005273561.1:n.638-17G=
NM_177924.5:c.704-17G= MANE Select	NP_808592.2:n.704-17G=
NM_001127505.3:c.686-17G=	NP_001120977.1:n.686-17G=
NM_001363743.2:c.509-17G=	NP_001350672.1:n.509-17G=
NM_004315.6:c.752-17G=	NP_004306.3:n.752-17G=