Canonical Allele Identifier: CA1064015652
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs1741210520
gnomAD v3: 4-71742376-T-A
gnomAD v4: 4-71742376-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71742376T>A , CM000666.2:g.71742376T>A GRCh38
NC_000004.11:g.72608093T>A , CM000666.1:g.72608093T>A GRCh37
NC_000004.10:g.72826957T>A NCBI36
NG_012837.2:g.68145A>T
NG_012837.3:g.68145A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.*26-506A>T MANE Select ENSP00000273951.8:n.*26-506A>T
ENST00000273951.12:c.*26-506A>T ENSP00000273951.8:n.*26-506A>T
ENST00000503364.5:n.124-506A>T
ENST00000503472.5:n.1335-506A>T
ENST00000504199.5:c.*26-506A>T ENSP00000421725.1:n.*26-506A>T
ENST00000509740.5:c.*274-506A>T ENSP00000422664.1:n.*274-506A>T
ENST00000513476.5:c.1396-506A>T ENSP00000426683.1:n.1396-506A>T
NM_000583.3:c.*26-506A>T NP_000574.2:n.*26-506A>T
NM_001204306.1:c.*26-506A>T NP_001191235.1:n.*26-506A>T
NM_001204307.1:c.*26-506A>T NP_001191236.1:n.*26-506A>T
XM_006714177.2:c.*40-506A>T XP_006714240.1:n.*40-506A>T
XM_006714177.3:c.*40-506A>T XP_006714240.1:n.*40-506A>T
NM_000583.4:c.*26-506A>T MANE Select NP_000574.2:n.*26-506A>T