Canonical Allele Identifier: CA390745557

Gene: GALC

Linked Data

• dbSNP Id: rs1414457160
• gnomAD v2: 14-88406322-C-T
• gnomAD v4: 14-87939978-C-T
• MyVariant Identifiers: chr14:g.88406322C>T (hg19) ; chr14:g.87939978C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939978C>T , CM000676.2:g.87939978C>T	GRCh38
NC_000014.8:g.88406322C>T , CM000676.1:g.88406322C>T	GRCh37
NC_000014.7:g.87476075C>T	NCBI36
NG_011853.2:g.58586G>A
NG_011853.3:g.58586G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1838G>A MANE Select	ENSP00000261304.2:p.Gly613Glu
ENST00000261304.6:c.1838G>A	ENSP00000261304.2:p.Gly613Glu
ENST00000393568.8:c.1769G>A	ENSP00000377198.4:p.Gly590Glu
ENST00000393569.6:c.1760G>A	ENSP00000377199.2:p.Gly587Glu
ENST00000544807.6:c.1670G>A	ENSP00000437513.2:p.Gly557Glu
ENST00000555000.5:c.1205G>A	ENSP00000450472.1:p.Gly402Glu
ENST00000555179.1:c.374G>A
NM_000153.3:c.1838G>A	NP_000144.2:p.Gly613Glu
NM_001201401.1:c.1769G>A	NP_001188330.1:p.Gly590Glu
NM_001201402.1:c.1760G>A	NP_001188331.1:p.Gly587Glu
XM_011536618.1:c.1670G>A	XP_011534920.1:p.Gly557Glu
XM_011536618.2:c.1670G>A	XP_011534920.1:p.Gly557Glu
NM_000153.4:c.1838G>A MANE Select	NP_000144.2:p.Gly613Glu
NM_001201401.2:c.1769G>A	NP_001188330.1:p.Gly590Glu
NM_001201402.2:c.1760G>A	NP_001188331.1:p.Gly587Glu