Canonical Allele Identifier: CA2153352686

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939908A= , CM000676.2:g.87939908A=	GRCh38
NC_000014.8:g.88406252A= , CM000676.1:g.88406252A=	GRCh37
NC_000014.7:g.87476005A=	NCBI36
NG_011853.2:g.58656T=
NG_011853.3:g.58656T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1908T= MANE Select	ENSP00000261304.2:p.Ile636=
ENST00000261304.6:c.1908T=	ENSP00000261304.2:p.Ile636=
ENST00000393568.8:c.1839T=	ENSP00000377198.4:p.Ile613=
ENST00000393569.6:c.1830T=	ENSP00000377199.2:p.Ile610=
ENST00000544807.6:c.1740T=	ENSP00000437513.2:p.Ile580=
ENST00000555000.5:c.1275T=	ENSP00000450472.1:p.Ile425=
ENST00000555179.1:c.444T=
NM_000153.3:c.1908T=	NP_000144.2:p.Ile636=
NM_001201401.1:c.1839T=	NP_001188330.1:p.Ile613=
NM_001201402.1:c.1830T=	NP_001188331.1:p.Ile610=
XM_011536618.1:c.1740T=	XP_011534920.1:p.Ile580=
XM_011536618.2:c.1740T=	XP_011534920.1:p.Ile580=
NM_000153.4:c.1908T= MANE Select	NP_000144.2:p.Ile636=
NM_001201401.2:c.1839T=	NP_001188330.1:p.Ile613=
NM_001201402.2:c.1830T=	NP_001188331.1:p.Ile610=