Canonical Allele Identifier: CA11690747
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs222020
gnomAD v2: 4-72636272-C-T
gnomAD v3: 4-71770555-C-T
gnomAD v4: 4-71770555-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71770555C>T , CM000666.2:g.71770555C>T GRCh38
NC_000004.11:g.72636272C>T , CM000666.1:g.72636272C>T GRCh37
NC_000004.10:g.72855136C>T NCBI36
NG_012837.2:g.39966G>A
NG_012837.3:g.39966G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000273951.13:c.59-1155G>A MANE Select ENSP00000273951.8:n.59-1155G>A
ENST00000273951.12:c.59-1155G>A ENSP00000273951.8:n.59-1155G>A
ENST00000504199.5:c.116-1155G>A ENSP00000421725.1:n.116-1155G>A
ENST00000506245.1:c.59-1155G>A ENSP00000426718.1:n.59-1155G>A
ENST00000509740.5:c.59-1155G>A ENSP00000422664.1:n.59-1155G>A
ENST00000513476.5:c.59-1155G>A ENSP00000426683.1:n.59-1155G>A
NM_000583.3:c.59-1155G>A NP_000574.2:n.59-1155G>A
NM_001204306.1:c.59-1155G>A NP_001191235.1:n.59-1155G>A
NM_001204307.1:c.116-1155G>A NP_001191236.1:n.116-1155G>A
XM_006714177.2:c.59-1155G>A XP_006714240.1:n.59-1155G>A
XM_006714177.3:c.59-1155G>A XP_006714240.1:n.59-1155G>A
NM_000583.4:c.59-1155G>A MANE Select NP_000574.2:n.59-1155G>A