Canonical Allele Identifier: CA99065880

Gene: GC

Linked Data

• dbSNP Id: rs777355457
• MyVariant Identifiers: chr4:g.72622594G>T (hg19) ; chr4:g.71756877G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71756877G>T , CM000666.2:g.71756877G>T	GRCh38
NC_000004.11:g.72622594G>T , CM000666.1:g.72622594G>T	GRCh37
NC_000004.10:g.72841458G>T	NCBI36
NG_012837.2:g.53644C>A
NG_012837.3:g.53644C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.869C>A MANE Select	ENSP00000273951.8:p.Ser290Tyr
ENST00000273951.12:c.869C>A	ENSP00000273951.8:p.Ser290Tyr
ENST00000503472.5:n.753C>A
ENST00000504199.5:c.926C>A	ENSP00000421725.1:p.Ser309Tyr
ENST00000509740.5:c.869C>A	ENSP00000422664.1:p.Ser290Tyr
ENST00000513476.5:c.869C>A	ENSP00000426683.1:p.Ser290Tyr
NM_000583.3:c.869C>A	NP_000574.2:p.Ser290Tyr
NM_001204306.1:c.869C>A	NP_001191235.1:p.Ser290Tyr
NM_001204307.1:c.926C>A	NP_001191236.1:p.Ser309Tyr
XM_006714177.2:c.869C>A	XP_006714240.1:p.Ser290Tyr
XM_006714177.3:c.869C>A	XP_006714240.1:p.Ser290Tyr
NM_000583.4:c.869C>A MANE Select	NP_000574.2:p.Ser290Tyr