Canonical Allele Identifier: CA7297456

Gene: GALC

Linked Data

• ClinVar Variation Id: 2137618
• ClinVar RCV Id: RCV003064234 ; RCV003064235 ; RCV003491207
• dbSNP Id: rs370117160
• ExAC: 14:88454827 C / T
• gnomAD v2: 14-88454827-C-T
• gnomAD v3: 14-87988483-C-T
• gnomAD v4: 14-87988483-C-T
• MyVariant Identifiers: chr14:g.88454827C>T (hg19) ; chr14:g.87988483C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988483C>T , CM000676.2:g.87988483C>T	GRCh38
NC_000014.8:g.88454827C>T , CM000676.1:g.88454827C>T	GRCh37
NC_000014.7:g.87524580C>T	NCBI36
NG_011853.2:g.10081G>A
NG_011853.3:g.10081G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.236G>A MANE Select	ENSP00000261304.2:p.Arg79His
ENST00000261304.6:c.236G>A	ENSP00000261304.2:p.Arg79His
ENST00000393568.8:c.196-276G>A	ENSP00000377198.4:n.196-276G>A
ENST00000393569.6:c.158G>A	ENSP00000377199.2:p.Arg53His
ENST00000474294.6:n.226G>A
ENST00000544807.6:c.68G>A	ENSP00000437513.2:p.Arg23His
ENST00000554372.5:c.236G>A	ENSP00000451884.1:p.Arg79His
ENST00000554916.5:n.115G>A
ENST00000555956.1:n.41G>A
ENST00000556879.5:c.296G>A	ENSP00000452208.1:n.296G>A
ENST00000557316.5:c.236G>A	ENSP00000452314.1:p.Arg79His
ENST00000622264.4:c.226G>A
NM_000153.3:c.236G>A	NP_000144.2:p.Arg79His
NM_001201401.1:c.196-276G>A	NP_001188330.1:n.196-276G>A
NM_001201402.1:c.158G>A	NP_001188331.1:p.Arg53His
XM_011536618.1:c.68G>A	XP_011534920.1:p.Arg23His
XM_011536618.2:c.68G>A	XP_011534920.1:p.Arg23His
NM_000153.4:c.236G>A MANE Select	NP_000144.2:p.Arg79His
NM_001201401.2:c.196-276G>A	NP_001188330.1:n.196-276G>A
NM_001201402.2:c.158G>A	NP_001188331.1:p.Arg53His