Canonical Allele Identifier: CA99065801

Gene: GC

Linked Data

• dbSNP Id: rs891753586
• MyVariant Identifiers: chr4:g.72622514C>T (hg19) ; chr4:g.71756797C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71756797C>T , CM000666.2:g.71756797C>T	GRCh38
NC_000004.11:g.72622514C>T , CM000666.1:g.72622514C>T	GRCh37
NC_000004.10:g.72841378C>T	NCBI36
NG_012837.2:g.53724G>A
NG_012837.3:g.53724G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.949G>A MANE Select	ENSP00000273951.8:p.Ala317Thr
ENST00000273951.12:c.949G>A	ENSP00000273951.8:p.Ala317Thr
ENST00000503472.5:n.833G>A
ENST00000504199.5:c.1006G>A	ENSP00000421725.1:p.Ala336Thr
ENST00000509740.5:c.949G>A	ENSP00000422664.1:p.Ala317Thr
ENST00000513476.5:c.949G>A	ENSP00000426683.1:p.Ala317Thr
NM_000583.3:c.949G>A	NP_000574.2:p.Ala317Thr
NM_001204306.1:c.949G>A	NP_001191235.1:p.Ala317Thr
NM_001204307.1:c.1006G>A	NP_001191236.1:p.Ala336Thr
XM_006714177.2:c.949G>A	XP_006714240.1:p.Ala317Thr
XM_006714177.3:c.949G>A	XP_006714240.1:p.Ala317Thr
NM_000583.4:c.949G>A MANE Select	NP_000574.2:p.Ala317Thr