Canonical Allele Identifier: CA357205050

Gene: GC

Linked Data

• dbSNP Id: rs1293236026
• gnomAD v2: 4-72622619-T-C
• gnomAD v3: 4-71756902-T-C
• gnomAD v4: 4-71756902-T-C
• MyVariant Identifiers: chr4:g.72622619T>C (hg19) ; chr4:g.71756902T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71756902T>C , CM000666.2:g.71756902T>C	GRCh38
NC_000004.11:g.72622619T>C , CM000666.1:g.72622619T>C	GRCh37
NC_000004.10:g.72841483T>C	NCBI36
NG_012837.2:g.53619A>G
NG_012837.3:g.53619A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.844A>G MANE Select	ENSP00000273951.8:p.Thr282Ala
ENST00000273951.12:c.844A>G	ENSP00000273951.8:p.Thr282Ala
ENST00000503472.5:n.728A>G
ENST00000504199.5:c.901A>G	ENSP00000421725.1:p.Thr301Ala
ENST00000509740.5:c.844A>G	ENSP00000422664.1:p.Thr282Ala
ENST00000513476.5:c.844A>G	ENSP00000426683.1:p.Thr282Ala
NM_000583.3:c.844A>G	NP_000574.2:p.Thr282Ala
NM_001204306.1:c.844A>G	NP_001191235.1:p.Thr282Ala
NM_001204307.1:c.901A>G	NP_001191236.1:p.Thr301Ala
XM_006714177.2:c.844A>G	XP_006714240.1:p.Thr282Ala
XM_006714177.3:c.844A>G	XP_006714240.1:p.Thr282Ala
NM_000583.4:c.844A>G MANE Select	NP_000574.2:p.Thr282Ala