Canonical Allele Identifier: CA99062539
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs1048861436
gnomAD v2: 4-72616986-G-A
gnomAD v3: 4-71751269-G-A
gnomAD v4: 4-71751269-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71751269G>A , CM000666.2:g.71751269G>A GRCh38
NC_000004.11:g.72616986G>A , CM000666.1:g.72616986G>A GRCh37
NC_000004.10:g.72835850G>A NCBI36
NG_012837.2:g.59252C>T
NG_012837.3:g.59252C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000273951.13:c.1395+1249C>T MANE Select ENSP00000273951.8:n.1395+1249C>T
ENST00000273951.12:c.1395+1249C>T ENSP00000273951.8:n.1395+1249C>T
ENST00000503364.5:n.68+3142C>T
ENST00000503472.5:n.1279+1249C>T
ENST00000504199.5:c.1452+1249C>T ENSP00000421725.1:n.1452+1249C>T
ENST00000509740.5:c.*218+1249C>T ENSP00000422664.1:n.*218+1249C>T
ENST00000513476.5:c.1395+1249C>T ENSP00000426683.1:n.1395+1249C>T
NM_000583.3:c.1395+1249C>T NP_000574.2:n.1395+1249C>T
NM_001204306.1:c.1395+1249C>T NP_001191235.1:n.1395+1249C>T
NM_001204307.1:c.1452+1249C>T NP_001191236.1:n.1452+1249C>T
XM_006714177.2:c.1262+3142C>T XP_006714240.1:n.1262+3142C>T
XM_006714177.3:c.1262+3142C>T XP_006714240.1:n.1262+3142C>T
NM_000583.4:c.1395+1249C>T MANE Select NP_000574.2:n.1395+1249C>T