Canonical Allele Identifier: CA7297457

Gene: GALC

Linked Data

• ClinVar Variation Id: 655524
• ClinVar RCV Id: RCV000811717 ; RCV002282375 ; RCV002538105 ; RCV003132077
• dbSNP Id: rs73312829
• ExAC: 14:88454828 G / A
• gnomAD v2: 14-88454828-G-A
• gnomAD v3: 14-87988484-G-A
• gnomAD v4: 14-87988484-G-A
• COSMIC: COSM699202
• MyVariant Identifiers: chr14:g.88454828G>A (hg19) ; chr14:g.87988484G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988484G>A , CM000676.2:g.87988484G>A	GRCh38
NC_000014.8:g.88454828G>A , CM000676.1:g.88454828G>A	GRCh37
NC_000014.7:g.87524581G>A	NCBI36
NG_011853.2:g.10080C>T
NG_011853.3:g.10080C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.235C>T MANE Select	ENSP00000261304.2:p.Arg79Cys
ENST00000261304.6:c.235C>T	ENSP00000261304.2:p.Arg79Cys
ENST00000393568.8:c.196-277C>T	ENSP00000377198.4:n.196-277C>T
ENST00000393569.6:c.157C>T	ENSP00000377199.2:p.Arg53Cys
ENST00000474294.6:n.225C>T
ENST00000544807.6:c.67C>T	ENSP00000437513.2:p.Arg23Cys
ENST00000554372.5:c.235C>T	ENSP00000451884.1:p.Arg79Cys
ENST00000554916.5:n.114C>T
ENST00000555956.1:n.40C>T
ENST00000556879.5:c.295C>T	ENSP00000452208.1:n.295C>T
ENST00000557316.5:c.235C>T	ENSP00000452314.1:p.Arg79Cys
ENST00000622264.4:c.225C>T
NM_000153.3:c.235C>T	NP_000144.2:p.Arg79Cys
NM_001201401.1:c.196-277C>T	NP_001188330.1:n.196-277C>T
NM_001201402.1:c.157C>T	NP_001188331.1:p.Arg53Cys
XM_011536618.1:c.67C>T	XP_011534920.1:p.Arg23Cys
XM_011536618.2:c.67C>T	XP_011534920.1:p.Arg23Cys
NM_000153.4:c.235C>T MANE Select	NP_000144.2:p.Arg79Cys
NM_001201401.2:c.196-277C>T	NP_001188330.1:n.196-277C>T
NM_001201402.2:c.157C>T	NP_001188331.1:p.Arg53Cys