Canonical Allele Identifier: CA357212254
Gene: GC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71783994G>A , CM000666.2:g.71783994G>A GRCh38
NC_000004.11:g.72649711G>A , CM000666.1:g.72649711G>A GRCh37
NC_000004.10:g.72868575G>A NCBI36
NG_012837.2:g.26527C>T
NG_012837.3:g.26527C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.25C>T MANE Select ENSP00000273951.8:p.Leu9Phe
ENST00000273951.12:c.25C>T ENSP00000273951.8:p.Leu9Phe
ENST00000504199.5:c.82C>T ENSP00000421725.1:p.Leu28Phe
ENST00000506245.1:c.25C>T ENSP00000426718.1:p.Leu9Phe
ENST00000509740.5:c.25C>T ENSP00000422664.1:p.Leu9Phe
ENST00000513476.5:c.25C>T ENSP00000426683.1:p.Leu9Phe
NM_000583.3:c.25C>T NP_000574.2:p.Leu9Phe
NM_001204306.1:c.25C>T NP_001191235.1:p.Leu9Phe
NM_001204307.1:c.82C>T NP_001191236.1:p.Leu28Phe
XM_006714177.2:c.25C>T XP_006714240.1:p.Leu9Phe
XM_006714177.3:c.25C>T XP_006714240.1:p.Leu9Phe
NM_000583.4:c.25C>T MANE Select NP_000574.2:p.Leu9Phe