Canonical Allele Identifier: CA7296807

Gene: GALC

Linked Data

• ClinVar Variation Id: 314735
• ClinVar RCV Id: RCV000377428
• dbSNP Id: rs114174103
• ExAC: 14:88400275 T / A
• gnomAD v2: 14-88400275-T-A
• gnomAD v3: 14-87933931-T-A
• gnomAD v4: 14-87933931-T-A
• MyVariant Identifiers: chr14:g.88400275T>A (hg19) ; chr14:g.87933931T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87933931T>A , CM000676.2:g.87933931T>A	GRCh38
NC_000014.8:g.88400275T>A , CM000676.1:g.88400275T>A	GRCh37
NC_000014.7:g.87470028T>A	NCBI36
NG_011853.2:g.64633A>T
NG_011853.3:g.64633A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.*801A>T MANE Select	ENSP00000261304.2:n.*801A>T
ENST00000261304.6:c.*801A>T	ENSP00000261304.2:n.*801A>T
ENST00000544807.6:c.*42A>T	ENSP00000437513.2:n.*42A>T
ENST00000555000.5:c.*42A>T	ENSP00000450472.1:n.*42A>T
NM_000153.3:c.*801A>T	NP_000144.2:n.*801A>T
NM_001201401.1:c.*801A>T	NP_001188330.1:n.*801A>T
NM_001201402.1:c.*801A>T	NP_001188331.1:n.*801A>T
XM_011536618.1:c.*801A>T	XP_011534920.1:n.*801A>T
XM_011536618.2:c.*801A>T	XP_011534920.1:n.*801A>T
NM_000153.4:c.*801A>T MANE Select	NP_000144.2:n.*801A>T
NM_001201401.2:c.*801A>T	NP_001188330.1:n.*801A>T
NM_001201402.2:c.*801A>T	NP_001188331.1:n.*801A>T