Canonical Allele Identifier: CA7296876

Gene: GALC

Linked Data

• ClinVar Variation Id: 2186890
• ClinVar RCV Id: RCV002611181
• dbSNP Id: rs771706640
• ExAC: 14:88406256 G / T
• gnomAD v2: 14-88406256-G-T
• gnomAD v4: 14-87939912-G-T
• MyVariant Identifiers: chr14:g.88406256G>T (hg19) ; chr14:g.87939912G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939912G>T , CM000676.2:g.87939912G>T	GRCh38
NC_000014.8:g.88406256G>T , CM000676.1:g.88406256G>T	GRCh37
NC_000014.7:g.87476009G>T	NCBI36
NG_011853.2:g.58652C>A
NG_011853.3:g.58652C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1904C>A MANE Select	ENSP00000261304.2:p.Thr635Asn
ENST00000261304.6:c.1904C>A	ENSP00000261304.2:p.Thr635Asn
ENST00000393568.8:c.1835C>A	ENSP00000377198.4:p.Thr612Asn
ENST00000393569.6:c.1826C>A	ENSP00000377199.2:p.Thr609Asn
ENST00000544807.6:c.1736C>A	ENSP00000437513.2:p.Thr579Asn
ENST00000555000.5:c.1271C>A	ENSP00000450472.1:p.Thr424Asn
ENST00000555179.1:c.440C>A
NM_000153.3:c.1904C>A	NP_000144.2:p.Thr635Asn
NM_001201401.1:c.1835C>A	NP_001188330.1:p.Thr612Asn
NM_001201402.1:c.1826C>A	NP_001188331.1:p.Thr609Asn
XM_011536618.1:c.1736C>A	XP_011534920.1:p.Thr579Asn
XM_011536618.2:c.1736C>A	XP_011534920.1:p.Thr579Asn
NM_000153.4:c.1904C>A MANE Select	NP_000144.2:p.Thr635Asn
NM_001201401.2:c.1835C>A	NP_001188330.1:p.Thr612Asn
NM_001201402.2:c.1826C>A	NP_001188331.1:p.Thr609Asn