Canonical Allele Identifier: CA10645171

Gene: GALC

Linked Data

• ClinVar Variation Id: 314728
• ClinVar RCV Id: RCV000301093
• dbSNP Id: rs757918900
• gnomAD v2: 14-88399618-A-G
• gnomAD v3: 14-87933274-A-G
• gnomAD v4: 14-87933274-A-G
• MyVariant Identifiers: chr14:g.88399618A>G (hg19) ; chr14:g.87933274A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87933274A>G , CM000676.2:g.87933274A>G	GRCh38
NC_000014.8:g.88399618A>G , CM000676.1:g.88399618A>G	GRCh37
NC_000014.7:g.87469371A>G	NCBI36
NG_011853.2:g.65290T>C
NG_011853.3:g.65290T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.*1458T>C MANE Select	ENSP00000261304.2:n.*1458T>C
ENST00000261304.6:c.*1458T>C	ENSP00000261304.2:n.*1458T>C
ENST00000555000.5:c.*74+625T>C	ENSP00000450472.1:n.*74+625T>C
NM_000153.3:c.*1458T>C	NP_000144.2:n.*1458T>C
NM_001201401.1:c.*1458T>C	NP_001188330.1:n.*1458T>C
NM_001201402.1:c.*1458T>C	NP_001188331.1:n.*1458T>C
XM_011536618.1:c.*1458T>C	XP_011534920.1:n.*1458T>C
XM_011536618.2:c.*1458T>C	XP_011534920.1:n.*1458T>C
NM_000153.4:c.*1458T>C MANE Select	NP_000144.2:n.*1458T>C
NM_001201401.2:c.*1458T>C	NP_001188330.1:n.*1458T>C
NM_001201402.2:c.*1458T>C	NP_001188331.1:n.*1458T>C