Canonical Allele Identifier: CA7297559
Gene: GALC HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.87993491C>A
GRCh37 chr14:g.88459835C>A
gnomAD v2:
14:88459835 C / A
gnomAD v3:
14:87993491 C / A
gnomAD v4:
chr14-87993491-C-A
Joint Max Group AF 0.00234904 (MID)
Genomes Max Group AF 0.00153417 (NFE)
Exomes Max Group AF 0.00232727 (MID)
ClinVar RCV:
RCV000416202
RCV000765183
ClinVar Variation:
374669
dbSNP:
185943390
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87993491C>A , CM000676.2:g.87993491C>A GRCh38
NC_000014.8:g.88459835C>A , CM000676.1:g.88459835C>A GRCh37
NC_000014.7:g.87529588C>A NCBI36
NG_011853.2:g.5073G>T
NG_011853.3:g.5073G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393569.6:c.9G>T ENSP00000377199.2:p.Gly3=
NM_001201402.1:c.9G>T NP_001188331.1:p.Gly3=
NM_001201402.2:c.9G>T NP_001188331.1:p.Gly3=
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