Canonical Allele Identifier: CA1063999671

Gene: GC

Linked Data

• dbSNP Id: rs1742550370
• gnomAD v3: 4-71777673-A-G
• gnomAD v4: 4-71777673-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71777673A>G , CM000666.2:g.71777673A>G	GRCh38
NC_000004.11:g.72643390A>G , CM000666.1:g.72643390A>G	GRCh37
NC_000004.10:g.72862254A>G	NCBI36
NG_012837.2:g.32848T>C
NG_012837.3:g.32848T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000273951.13:c.58+6288T>C MANE Select	ENSP00000273951.8:n.58+6288T>C
ENST00000273951.12:c.58+6288T>C	ENSP00000273951.8:n.58+6288T>C
ENST00000504199.5:c.115+6288T>C	ENSP00000421725.1:n.115+6288T>C
ENST00000506245.1:c.58+6288T>C	ENSP00000426718.1:n.58+6288T>C
ENST00000509740.5:c.58+6288T>C	ENSP00000422664.1:n.58+6288T>C
ENST00000513476.5:c.58+6288T>C	ENSP00000426683.1:n.58+6288T>C
NM_000583.3:c.58+6288T>C	NP_000574.2:n.58+6288T>C
NM_001204306.1:c.58+6288T>C	NP_001191235.1:n.58+6288T>C
NM_001204307.1:c.115+6288T>C	NP_001191236.1:n.115+6288T>C
XM_006714177.2:c.58+6288T>C	XP_006714240.1:n.58+6288T>C
XM_006714177.3:c.58+6288T>C	XP_006714240.1:n.58+6288T>C
NM_000583.4:c.58+6288T>C MANE Select	NP_000574.2:n.58+6288T>C