Canonical Allele Identifier: CA1063993200
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs1741857983
gnomAD v3: 4-71758459-C-T
gnomAD v4: 4-71758459-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71758459C>T , CM000666.2:g.71758459C>T GRCh38
NC_000004.11:g.72624176C>T , CM000666.1:g.72624176C>T GRCh37
NC_000004.10:g.72843040C>T NCBI36
NG_012837.2:g.52062G>A
NG_012837.3:g.52062G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.702-288G>A MANE Select ENSP00000273951.8:n.702-288G>A
ENST00000273951.12:c.702-288G>A ENSP00000273951.8:n.702-288G>A
ENST00000503472.5:n.586-288G>A
ENST00000504199.5:c.759-288G>A ENSP00000421725.1:n.759-288G>A
ENST00000509740.5:c.702-288G>A ENSP00000422664.1:n.702-288G>A
ENST00000513476.5:c.702-288G>A ENSP00000426683.1:n.702-288G>A
NM_000583.3:c.702-288G>A NP_000574.2:n.702-288G>A
NM_001204306.1:c.702-288G>A NP_001191235.1:n.702-288G>A
NM_001204307.1:c.759-288G>A NP_001191236.1:n.759-288G>A
XM_006714177.2:c.702-288G>A XP_006714240.1:n.702-288G>A
XM_006714177.3:c.702-288G>A XP_006714240.1:n.702-288G>A
NM_000583.4:c.702-288G>A MANE Select NP_000574.2:n.702-288G>A