Canonical Allele Identifier: CA2153385601

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984398A= , CM000676.2:g.87984398A=	GRCh38
NC_000014.8:g.88450742A= , CM000676.1:g.88450742A=	GRCh37
NC_000014.7:g.87520495A=	NCBI36
NG_011853.2:g.14166T=
NG_011853.3:g.14166T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.578T= MANE Select	ENSP00000261304.2:p.Ile193=
ENST00000261304.6:c.578T=	ENSP00000261304.2:p.Ile193=
ENST00000393568.8:c.509T=	ENSP00000377198.4:p.Ile170=
ENST00000393569.6:c.500T=	ENSP00000377199.2:p.Ile167=
ENST00000474294.6:n.568T=
ENST00000544807.6:c.410T=	ENSP00000437513.2:p.Ile137=
ENST00000554372.5:c.*327T=	ENSP00000451884.1:n.*327T=
ENST00000554916.5:n.457T=
ENST00000556261.5:n.279T=
ENST00000557316.5:c.578T=	ENSP00000452314.1:p.Ile193=
ENST00000622264.4:c.568T=
NM_000153.3:c.578T=	NP_000144.2:p.Ile193=
NM_001201401.1:c.509T=	NP_001188330.1:p.Ile170=
NM_001201402.1:c.500T=	NP_001188331.1:p.Ile167=
XM_011536618.1:c.410T=	XP_011534920.1:p.Ile137=
XM_011536618.2:c.410T=	XP_011534920.1:p.Ile137=
NM_000153.4:c.578T= MANE Select	NP_000144.2:p.Ile193=
NM_001201401.2:c.509T=	NP_001188330.1:p.Ile170=
NM_001201402.2:c.500T=	NP_001188331.1:p.Ile167=