Canonical Allele Identifier: CA1063992429
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs1741752682
gnomAD v3: 4-71755880-G-A
gnomAD v4: 4-71755880-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71755880G>A , CM000666.2:g.71755880G>A GRCh38
NC_000004.11:g.72621597G>A , CM000666.1:g.72621597G>A GRCh37
NC_000004.10:g.72840461G>A NCBI36
NG_012837.2:g.54641C>T
NG_012837.3:g.54641C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000273951.13:c.1035-773C>T MANE Select ENSP00000273951.8:n.1035-773C>T
ENST00000273951.12:c.1035-773C>T ENSP00000273951.8:n.1035-773C>T
ENST00000503472.5:n.919-773C>T
ENST00000504199.5:c.1092-773C>T ENSP00000421725.1:n.1092-773C>T
ENST00000509740.5:c.1034+832C>T ENSP00000422664.1:n.1034+832C>T
ENST00000513476.5:c.1035-773C>T ENSP00000426683.1:n.1035-773C>T
NM_000583.3:c.1035-773C>T NP_000574.2:n.1035-773C>T
NM_001204306.1:c.1035-773C>T NP_001191235.1:n.1035-773C>T
NM_001204307.1:c.1092-773C>T NP_001191236.1:n.1092-773C>T
XM_006714177.2:c.1035-773C>T XP_006714240.1:n.1035-773C>T
XM_006714177.3:c.1035-773C>T XP_006714240.1:n.1035-773C>T
NM_000583.4:c.1035-773C>T MANE Select NP_000574.2:n.1035-773C>T