Canonical Allele Identifier: CA99059558
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs842999
gnomAD v2: 4-72611690-G-T
gnomAD v3: 4-71745973-G-T
gnomAD v4: 4-71745973-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71745973G>T , CM000666.2:g.71745973G>T GRCh38
NC_000004.11:g.72611690G>T , CM000666.1:g.72611690G>T GRCh37
NC_000004.10:g.72830554G>T NCBI36
NG_012837.2:g.64548C>A
NG_012837.3:g.64548C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000273951.13:c.*25+178C>A MANE Select ENSP00000273951.8:n.*25+178C>A
ENST00000273951.12:c.*25+178C>A ENSP00000273951.8:n.*25+178C>A
ENST00000503364.5:n.123+178C>A
ENST00000503472.5:n.1334+178C>A
ENST00000504199.5:c.*25+178C>A ENSP00000421725.1:n.*25+178C>A
ENST00000509740.5:c.*273+178C>A ENSP00000422664.1:n.*273+178C>A
ENST00000513476.5:c.1396-4103C>A ENSP00000426683.1:n.1396-4103C>A
NM_000583.3:c.*25+178C>A NP_000574.2:n.*25+178C>A
NM_001204306.1:c.*25+178C>A NP_001191235.1:n.*25+178C>A
NM_001204307.1:c.*25+178C>A NP_001191236.1:n.*25+178C>A
XM_006714177.2:c.*39+178C>A XP_006714240.1:n.*39+178C>A
XM_006714177.3:c.*39+178C>A XP_006714240.1:n.*39+178C>A
NM_000583.4:c.*25+178C>A MANE Select NP_000574.2:n.*25+178C>A