Canonical Allele Identifier: CA2670941896
Gene: GC HGNC NCBI

Linked Data

gnomAD v4: 4-71756612-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71756612G>T , CM000666.2:g.71756612G>T GRCh38
NC_000004.11:g.72622329G>T , CM000666.1:g.72622329G>T GRCh37
NC_000004.10:g.72841193G>T NCBI36
NG_012837.2:g.53909C>A
NG_012837.3:g.53909C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.1034+100C>A MANE Select ENSP00000273951.8:n.1034+100C>A
ENST00000273951.12:c.1034+100C>A ENSP00000273951.8:n.1034+100C>A
ENST00000503472.5:n.918+100C>A
ENST00000504199.5:c.1091+100C>A ENSP00000421725.1:n.1091+100C>A
ENST00000509740.5:c.1034+100C>A ENSP00000422664.1:n.1034+100C>A
ENST00000513476.5:c.1034+100C>A ENSP00000426683.1:n.1034+100C>A
NM_000583.3:c.1034+100C>A NP_000574.2:n.1034+100C>A
NM_001204306.1:c.1034+100C>A NP_001191235.1:n.1034+100C>A
NM_001204307.1:c.1091+100C>A NP_001191236.1:n.1091+100C>A
XM_006714177.2:c.1034+100C>A XP_006714240.1:n.1034+100C>A
XM_006714177.3:c.1034+100C>A XP_006714240.1:n.1034+100C>A
NM_000583.4:c.1034+100C>A MANE Select NP_000574.2:n.1034+100C>A