Canonical Allele Identifier: CA51728631

Gene: GGCX

Linked Data

• dbSNP Id: rs1036862377
• gnomAD v3: 2-85545760-G-T
• gnomAD v4: 2-85545760-G-T
• MyVariant Identifiers: chr2:g.85772883G>T (hg19) ; chr2:g.85545760G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85545760G>T , CM000664.2:g.85545760G>T	GRCh38
NC_000002.11:g.85772883G>T , CM000664.1:g.85772883G>T	GRCh37
NC_000002.10:g.85626394G>T	NCBI36
NG_011811.2:g.20775C>A
NG_029183.1:g.11783G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233838.9:c.*4174C>A MANE Select	ENSP00000233838.3:n.*4174C>A
ENST00000233838.8:c.*4174C>A	ENSP00000233838.3:n.*4174C>A
NM_000821.5:c.*4174C>A	NP_000812.2:n.*4174C>A
NM_000821.6:c.*4174C>A	NP_000812.2:n.*4174C>A
NM_001142269.2:c.*4174C>A	NP_001135741.1:n.*4174C>A
NM_001142269.3:c.*4174C>A	NP_001135741.1:n.*4174C>A
NM_000821.7:c.*4174C>A MANE Select	NP_000812.2:n.*4174C>A
NM_001142269.4:c.*4174C>A	NP_001135741.1:n.*4174C>A