Canonical Allele Identifier: CA357204807
Gene: GC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71756794C>A , CM000666.2:g.71756794C>A GRCh38
NC_000004.11:g.72622511C>A , CM000666.1:g.72622511C>A GRCh37
NC_000004.10:g.72841375C>A NCBI36
NG_012837.2:g.53727G>T
NG_012837.3:g.53727G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.952G>T MANE Select ENSP00000273951.8:p.Ala318Ser
ENST00000273951.12:c.952G>T ENSP00000273951.8:p.Ala318Ser
ENST00000503472.5:n.836G>T
ENST00000504199.5:c.1009G>T ENSP00000421725.1:p.Ala337Ser
ENST00000509740.5:c.952G>T ENSP00000422664.1:p.Ala318Ser
ENST00000513476.5:c.952G>T ENSP00000426683.1:p.Ala318Ser
NM_000583.3:c.952G>T NP_000574.2:p.Ala318Ser
NM_001204306.1:c.952G>T NP_001191235.1:p.Ala318Ser
NM_001204307.1:c.1009G>T NP_001191236.1:p.Ala337Ser
XM_006714177.2:c.952G>T XP_006714240.1:p.Ala318Ser
XM_006714177.3:c.952G>T XP_006714240.1:p.Ala318Ser
NM_000583.4:c.952G>T MANE Select NP_000574.2:p.Ala318Ser