Canonical Allele Identifier: CA99065302
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs222035
gnomAD v2: 4-72621674-T-G
gnomAD v3: 4-71755957-T-G
gnomAD v4: 4-71755957-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71755957T>G , CM000666.2:g.71755957T>G GRCh38
NC_000004.11:g.72621674T>G , CM000666.1:g.72621674T>G GRCh37
NC_000004.10:g.72840538T>G NCBI36
NG_012837.2:g.54564A>C
NG_012837.3:g.54564A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000273951.13:c.1034+755A>C MANE Select ENSP00000273951.8:n.1034+755A>C
ENST00000273951.12:c.1034+755A>C ENSP00000273951.8:n.1034+755A>C
ENST00000503472.5:n.918+755A>C
ENST00000504199.5:c.1091+755A>C ENSP00000421725.1:n.1091+755A>C
ENST00000509740.5:c.1034+755A>C ENSP00000422664.1:n.1034+755A>C
ENST00000513476.5:c.1034+755A>C ENSP00000426683.1:n.1034+755A>C
NM_000583.3:c.1034+755A>C NP_000574.2:n.1034+755A>C
NM_001204306.1:c.1034+755A>C NP_001191235.1:n.1034+755A>C
NM_001204307.1:c.1091+755A>C NP_001191236.1:n.1091+755A>C
XM_006714177.2:c.1034+755A>C XP_006714240.1:n.1034+755A>C
XM_006714177.3:c.1034+755A>C XP_006714240.1:n.1034+755A>C
NM_000583.4:c.1034+755A>C MANE Select NP_000574.2:n.1034+755A>C