Canonical Allele Identifier: CA709641723

Gene: GALC

Linked Data

• ClinVar Variation Id: 1134798
• ClinVar RCV Id: RCV001469875
• dbSNP Id: rs1302684850
• gnomAD v3: 14-87988530-A-G
• gnomAD v4: 14-87988530-A-G
• MyVariant Identifiers: chr14:g.88454874A>G (hg19) ; chr14:g.87988530A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988530A>G , CM000676.2:g.87988530A>G	GRCh38
NC_000014.8:g.88454874A>G , CM000676.1:g.88454874A>G	GRCh37
NC_000014.7:g.87524627A>G	NCBI36
NG_011853.2:g.10034T>C
NG_011853.3:g.10034T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.196-7T>C MANE Select	ENSP00000261304.2:n.196-7T>C
ENST00000261304.6:c.196-7T>C	ENSP00000261304.2:n.196-7T>C
ENST00000393568.8:c.196-323T>C	ENSP00000377198.4:n.196-323T>C
ENST00000393569.6:c.118-7T>C	ENSP00000377199.2:n.118-7T>C
ENST00000474294.6:n.186-7T>C
ENST00000544807.6:c.28-7T>C	ENSP00000437513.2:n.28-7T>C
ENST00000554372.5:c.196-7T>C	ENSP00000451884.1:n.196-7T>C
ENST00000554916.5:n.75-7T>C
ENST00000556879.5:c.256-7T>C	ENSP00000452208.1:n.256-7T>C
ENST00000557316.5:c.196-7T>C	ENSP00000452314.1:n.196-7T>C
ENST00000622264.4:c.186-7T>C
NM_000153.3:c.196-7T>C	NP_000144.2:n.196-7T>C
NM_001201401.1:c.196-323T>C	NP_001188330.1:n.196-323T>C
NM_001201402.1:c.118-7T>C	NP_001188331.1:n.118-7T>C
XM_011536618.1:c.28-7T>C	XP_011534920.1:n.28-7T>C
XM_011536618.2:c.28-7T>C	XP_011534920.1:n.28-7T>C
NM_000153.4:c.196-7T>C MANE Select	NP_000144.2:n.196-7T>C
NM_001201401.2:c.196-323T>C	NP_001188330.1:n.196-323T>C
NM_001201402.2:c.118-7T>C	NP_001188331.1:n.118-7T>C