Canonical Allele Identifier: CA99058352
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs958252234
gnomAD v3: 4-71743603-C-T
gnomAD v4: 4-71743603-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71743603C>T , CM000666.2:g.71743603C>T GRCh38
NC_000004.11:g.72609320C>T , CM000666.1:g.72609320C>T GRCh37
NC_000004.10:g.72828184C>T NCBI36
NG_012837.2:g.66918G>A
NG_012837.3:g.66918G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000273951.13:c.*26-1733G>A MANE Select ENSP00000273951.8:n.*26-1733G>A
ENST00000273951.12:c.*26-1733G>A ENSP00000273951.8:n.*26-1733G>A
ENST00000503364.5:n.124-1733G>A
ENST00000503472.5:n.1335-1733G>A
ENST00000504199.5:c.*26-1733G>A ENSP00000421725.1:n.*26-1733G>A
ENST00000509740.5:c.*274-1733G>A ENSP00000422664.1:n.*274-1733G>A
ENST00000513476.5:c.1396-1733G>A ENSP00000426683.1:n.1396-1733G>A
NM_000583.3:c.*26-1733G>A NP_000574.2:n.*26-1733G>A
NM_001204306.1:c.*26-1733G>A NP_001191235.1:n.*26-1733G>A
NM_001204307.1:c.*26-1733G>A NP_001191236.1:n.*26-1733G>A
XM_006714177.2:c.*40-1733G>A XP_006714240.1:n.*40-1733G>A
XM_006714177.3:c.*40-1733G>A XP_006714240.1:n.*40-1733G>A
NM_000583.4:c.*26-1733G>A MANE Select NP_000574.2:n.*26-1733G>A