Canonical Allele Identifier: CA1064019195

Gene: GC

Linked Data

• dbSNP Id: rs370474133
• gnomAD v3: 4-71750936-T-G
• gnomAD v4: 4-71750936-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71750936T>G , CM000666.2:g.71750936T>G	GRCh38
NC_000004.11:g.72616653T>G , CM000666.1:g.72616653T>G	GRCh37
NC_000004.10:g.72835517T>G	NCBI36
NG_012837.2:g.59585A>C
NG_012837.3:g.59585A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.1395+1582A>C MANE Select	ENSP00000273951.8:n.1395+1582A>C
ENST00000273951.12:c.1395+1582A>C	ENSP00000273951.8:n.1395+1582A>C
ENST00000503364.5:n.68+3475A>C
ENST00000503472.5:n.1279+1582A>C
ENST00000504199.5:c.1452+1582A>C	ENSP00000421725.1:n.1452+1582A>C
ENST00000509740.5:c.*218+1582A>C	ENSP00000422664.1:n.*218+1582A>C
ENST00000513476.5:c.1395+1582A>C	ENSP00000426683.1:n.1395+1582A>C
NM_000583.3:c.1395+1582A>C	NP_000574.2:n.1395+1582A>C
NM_001204306.1:c.1395+1582A>C	NP_001191235.1:n.1395+1582A>C
NM_001204307.1:c.1452+1582A>C	NP_001191236.1:n.1452+1582A>C
XM_006714177.2:c.1262+3475A>C	XP_006714240.1:n.1262+3475A>C
XM_006714177.3:c.1262+3475A>C	XP_006714240.1:n.1262+3475A>C
NM_000583.4:c.1395+1582A>C MANE Select	NP_000574.2:n.1395+1582A>C