Canonical Allele Identifier: CA2522736722
Gene: GC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71777716T>A , CM000666.2:g.71777716T>A GRCh38
NC_000004.11:g.72643433T>A , CM000666.1:g.72643433T>A GRCh37
NC_000004.10:g.72862297T>A NCBI36
NG_012837.2:g.32805A>T
NG_012837.3:g.32805A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000273951.13:c.58+6245A>T MANE Select ENSP00000273951.8:n.58+6245A>T
ENST00000273951.12:c.58+6245A>T ENSP00000273951.8:n.58+6245A>T
ENST00000504199.5:c.115+6245A>T ENSP00000421725.1:n.115+6245A>T
ENST00000506245.1:c.58+6245A>T ENSP00000426718.1:n.58+6245A>T
ENST00000509740.5:c.58+6245A>T ENSP00000422664.1:n.58+6245A>T
ENST00000513476.5:c.58+6245A>T ENSP00000426683.1:n.58+6245A>T
NM_000583.3:c.58+6245A>T NP_000574.2:n.58+6245A>T
NM_001204306.1:c.58+6245A>T NP_001191235.1:n.58+6245A>T
NM_001204307.1:c.115+6245A>T NP_001191236.1:n.115+6245A>T
XM_006714177.2:c.58+6245A>T XP_006714240.1:n.58+6245A>T
XM_006714177.3:c.58+6245A>T XP_006714240.1:n.58+6245A>T
NM_000583.4:c.58+6245A>T MANE Select NP_000574.2:n.58+6245A>T