Canonical Allele Identifier: CA357204952
Gene: GC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71756858A>C , CM000666.2:g.71756858A>C GRCh38
NC_000004.11:g.72622575A>C , CM000666.1:g.72622575A>C GRCh37
NC_000004.10:g.72841439A>C NCBI36
NG_012837.2:g.53663T>G
NG_012837.3:g.53663T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000273951.13:c.888T>G MANE Select ENSP00000273951.8:p.Phe296Leu
ENST00000273951.12:c.888T>G ENSP00000273951.8:p.Phe296Leu
ENST00000503472.5:n.772T>G
ENST00000504199.5:c.945T>G ENSP00000421725.1:p.Phe315Leu
ENST00000509740.5:c.888T>G ENSP00000422664.1:p.Phe296Leu
ENST00000513476.5:c.888T>G ENSP00000426683.1:p.Phe296Leu
NM_000583.3:c.888T>G NP_000574.2:p.Phe296Leu
NM_001204306.1:c.888T>G NP_001191235.1:p.Phe296Leu
NM_001204307.1:c.945T>G NP_001191236.1:p.Phe315Leu
XM_006714177.2:c.888T>G XP_006714240.1:p.Phe296Leu
XM_006714177.3:c.888T>G XP_006714240.1:p.Phe296Leu
NM_000583.4:c.888T>G MANE Select NP_000574.2:p.Phe296Leu