Canonical Allele Identifier: CA2955532

Gene: GC

Linked Data

• dbSNP Id: rs375201505
• ExAC: 4:72622499 C / T
• gnomAD v2: 4-72622499-C-T
• gnomAD v3: 4-71756782-C-T
• gnomAD v4: 4-71756782-C-T
• MyVariant Identifiers: chr4:g.72622499C>T (hg19) ; chr4:g.71756782C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71756782C>T , CM000666.2:g.71756782C>T	GRCh38
NC_000004.11:g.72622499C>T , CM000666.1:g.72622499C>T	GRCh37
NC_000004.10:g.72841363C>T	NCBI36
NG_012837.2:g.53739G>A
NG_012837.3:g.53739G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.964G>A MANE Select	ENSP00000273951.8:p.Glu322Lys
ENST00000273951.12:c.964G>A	ENSP00000273951.8:p.Glu322Lys
ENST00000503472.5:n.848G>A
ENST00000504199.5:c.1021G>A	ENSP00000421725.1:p.Glu341Lys
ENST00000509740.5:c.964G>A	ENSP00000422664.1:p.Glu322Lys
ENST00000513476.5:c.964G>A	ENSP00000426683.1:p.Glu322Lys
NM_000583.3:c.964G>A	NP_000574.2:p.Glu322Lys
NM_001204306.1:c.964G>A	NP_001191235.1:p.Glu322Lys
NM_001204307.1:c.1021G>A	NP_001191236.1:p.Glu341Lys
XM_006714177.2:c.964G>A	XP_006714240.1:p.Glu322Lys
XM_006714177.3:c.964G>A	XP_006714240.1:p.Glu322Lys
NM_000583.4:c.964G>A MANE Select	NP_000574.2:p.Glu322Lys