Canonical Allele Identifier: CA615275178

Gene: GALC

Linked Data

• dbSNP Id: rs1172078647
• gnomAD v2: 14-88434670-A-G
• gnomAD v4: 14-87968326-A-G
• MyVariant Identifiers: chr14:g.88434670A>G (hg19) ; chr14:g.87968326A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968326A>G , CM000676.2:g.87968326A>G	GRCh38
NC_000014.8:g.88434670A>G , CM000676.1:g.88434670A>G	GRCh37
NC_000014.7:g.87504423A>G	NCBI36
NG_011853.2:g.30238T>C
NG_011853.3:g.30238T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.908+9T>C MANE Select	ENSP00000261304.2:n.908+9T>C
ENST00000261304.6:c.908+9T>C	ENSP00000261304.2:n.908+9T>C
ENST00000393568.8:c.839+9T>C	ENSP00000377198.4:n.839+9T>C
ENST00000393569.6:c.830+9T>C	ENSP00000377199.2:n.830+9T>C
ENST00000474294.6:n.898+9T>C
ENST00000544807.6:c.740+9T>C	ENSP00000437513.2:n.740+9T>C
ENST00000555000.5:c.275+9T>C	ENSP00000450472.1:n.275+9T>C
ENST00000557316.5:c.*306+9T>C	ENSP00000452314.1:n.*306+9T>C
ENST00000622264.4:c.898+9T>C
NM_000153.3:c.908+9T>C	NP_000144.2:n.908+9T>C
NM_001201401.1:c.839+9T>C	NP_001188330.1:n.839+9T>C
NM_001201402.1:c.830+9T>C	NP_001188331.1:n.830+9T>C
XM_011536618.1:c.740+9T>C	XP_011534920.1:n.740+9T>C
XM_011536618.2:c.740+9T>C	XP_011534920.1:n.740+9T>C
NM_000153.4:c.908+9T>C MANE Select	NP_000144.2:n.908+9T>C
NM_001201401.2:c.839+9T>C	NP_001188330.1:n.839+9T>C
NM_001201402.2:c.830+9T>C	NP_001188331.1:n.830+9T>C