Canonical Allele Identifier: CA390745562

Gene: GALC

Linked Data

• ClinVar Variation Id: 2689106
• ClinVar RCV Id: RCV003487856
• dbSNP Id: rs1468731789
• gnomAD v2: 14-88406325-G-A
• gnomAD v3: 14-87939981-G-A
• gnomAD v4: 14-87939981-G-A
• MyVariant Identifiers: chr14:g.88406325G>A (hg19) ; chr14:g.87939981G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939981G>A , CM000676.2:g.87939981G>A	GRCh38
NC_000014.8:g.88406325G>A , CM000676.1:g.88406325G>A	GRCh37
NC_000014.7:g.87476078G>A	NCBI36
NG_011853.2:g.58583C>T
NG_011853.3:g.58583C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1835C>T MANE Select	ENSP00000261304.2:p.Ala612Val
ENST00000261304.6:c.1835C>T	ENSP00000261304.2:p.Ala612Val
ENST00000393568.8:c.1766C>T	ENSP00000377198.4:p.Ala589Val
ENST00000393569.6:c.1757C>T	ENSP00000377199.2:p.Ala586Val
ENST00000544807.6:c.1667C>T	ENSP00000437513.2:p.Ala556Val
ENST00000555000.5:c.1202C>T	ENSP00000450472.1:p.Ala401Val
ENST00000555179.1:c.371C>T
NM_000153.3:c.1835C>T	NP_000144.2:p.Ala612Val
NM_001201401.1:c.1766C>T	NP_001188330.1:p.Ala589Val
NM_001201402.1:c.1757C>T	NP_001188331.1:p.Ala586Val
XM_011536618.1:c.1667C>T	XP_011534920.1:p.Ala556Val
XM_011536618.2:c.1667C>T	XP_011534920.1:p.Ala556Val
NM_000153.4:c.1835C>T MANE Select	NP_000144.2:p.Ala612Val
NM_001201401.2:c.1766C>T	NP_001188330.1:p.Ala589Val
NM_001201402.2:c.1757C>T	NP_001188331.1:p.Ala586Val