Canonical Allele Identifier: CA2153352700

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939926A= , CM000676.2:g.87939926A=	GRCh38
NC_000014.8:g.88406270A= , CM000676.1:g.88406270A=	GRCh37
NC_000014.7:g.87476023A=	NCBI36
NG_011853.2:g.58638T=
NG_011853.3:g.58638T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1890T= MANE Select	NP_000144.2:p.Tyr630=
ENST00000261304.7:c.1890T= MANE Select	ENSP00000261304.2:p.Tyr630=
NM_000153.3:c.1890T=	NP_000144.2:p.Tyr630=
NM_001201401.1:c.1821T=	NP_001188330.1:p.Tyr607=
NM_001201401.2:c.1821T=	NP_001188330.1:p.Tyr607=
NM_001201402.1:c.1812T=	NP_001188331.1:p.Tyr604=
NM_001201402.2:c.1812T=	NP_001188331.1:p.Tyr604=
ENST00000261304.6:c.1890T=	ENSP00000261304.2:p.Tyr630=
ENST00000393568.8:c.1821T=	ENSP00000377198.4:p.Tyr607=
ENST00000393569.6:c.1812T=	ENSP00000377199.2:p.Tyr604=
ENST00000544807.6:c.1722T=	ENSP00000437513.2:p.Tyr574=
ENST00000555000.5:c.1257T=	ENSP00000450472.1:p.Tyr419=
ENST00000555179.1:c.426T=
XM_011536618.1:c.1722T=	XP_011534920.1:p.Tyr574=
XM_011536618.2:c.1722T=	XP_011534920.1:p.Tyr574=