Canonical Allele Identifier: CA16041690

Gene: GALC

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1890T>A MANE Select	ENSP00000261304.2:p.Tyr630Ter
ENST00000261304.6:c.1890T>A	ENSP00000261304.2:p.Tyr630Ter
ENST00000393568.8:c.1821T>A	ENSP00000377198.4:p.Tyr607Ter
ENST00000393569.6:c.1812T>A	ENSP00000377199.2:p.Tyr604Ter
ENST00000544807.6:c.1722T>A	ENSP00000437513.2:p.Tyr574Ter
ENST00000555000.5:c.1257T>A	ENSP00000450472.1:p.Tyr419Ter
ENST00000555179.1:c.426T>A
NM_000153.3:c.1890T>A	NP_000144.2:p.Tyr630Ter
NM_001201401.1:c.1821T>A	NP_001188330.1:p.Tyr607Ter
NM_001201402.1:c.1812T>A	NP_001188331.1:p.Tyr604Ter
XM_011536618.1:c.1722T>A	XP_011534920.1:p.Tyr574Ter
XM_011536618.2:c.1722T>A	XP_011534920.1:p.Tyr574Ter
NM_000153.4:c.1890T>A MANE Select	NP_000144.2:p.Tyr630Ter
NM_001201401.2:c.1821T>A	NP_001188330.1:p.Tyr607Ter
NM_001201402.2:c.1812T>A	NP_001188331.1:p.Tyr604Ter