Canonical Allele Identifier: CA1467353676
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs1487363186

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71751324C>A , CM000666.2:g.71751324C>A GRCh38
NC_000004.11:g.72617041C>A , CM000666.1:g.72617041C>A GRCh37
NC_000004.10:g.72835905C>A NCBI36
NG_012837.2:g.59197G>T
NG_012837.3:g.59197G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000273951.13:c.1395+1194G>T MANE Select ENSP00000273951.8:n.1395+1194G>T
ENST00000273951.12:c.1395+1194G>T ENSP00000273951.8:n.1395+1194G>T
ENST00000503364.5:n.68+3087G>T
ENST00000503472.5:n.1279+1194G>T
ENST00000504199.5:c.1452+1194G>T ENSP00000421725.1:n.1452+1194G>T
ENST00000509740.5:c.*218+1194G>T ENSP00000422664.1:n.*218+1194G>T
ENST00000513476.5:c.1395+1194G>T ENSP00000426683.1:n.1395+1194G>T
NM_000583.3:c.1395+1194G>T NP_000574.2:n.1395+1194G>T
NM_001204306.1:c.1395+1194G>T NP_001191235.1:n.1395+1194G>T
NM_001204307.1:c.1452+1194G>T NP_001191236.1:n.1452+1194G>T
XM_006714177.2:c.1262+3087G>T XP_006714240.1:n.1262+3087G>T
XM_006714177.3:c.1262+3087G>T XP_006714240.1:n.1262+3087G>T
NM_000583.4:c.1395+1194G>T MANE Select NP_000574.2:n.1395+1194G>T