Canonical Allele Identifier: CA357212078
Gene: GC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71783968T>G , CM000666.2:g.71783968T>G GRCh38
NC_000004.11:g.72649685T>G , CM000666.1:g.72649685T>G GRCh37
NC_000004.10:g.72868549T>G NCBI36
NG_012837.2:g.26553A>C
NG_012837.3:g.26553A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000273951.13:c.51A>C MANE Select ENSP00000273951.8:p.Leu17Phe
ENST00000273951.12:c.51A>C ENSP00000273951.8:p.Leu17Phe
ENST00000504199.5:c.108A>C ENSP00000421725.1:p.Leu36Phe
ENST00000506245.1:c.51A>C ENSP00000426718.1:p.Leu17Phe
ENST00000509740.5:c.51A>C ENSP00000422664.1:p.Leu17Phe
ENST00000513476.5:c.51A>C ENSP00000426683.1:p.Leu17Phe
NM_000583.3:c.51A>C NP_000574.2:p.Leu17Phe
NM_001204306.1:c.51A>C NP_001191235.1:p.Leu17Phe
NM_001204307.1:c.108A>C NP_001191236.1:p.Leu36Phe
XM_006714177.2:c.51A>C XP_006714240.1:p.Leu17Phe
XM_006714177.3:c.51A>C XP_006714240.1:p.Leu17Phe
NM_000583.4:c.51A>C MANE Select NP_000574.2:p.Leu17Phe