Canonical Allele Identifier: CA6828057

Gene: COX6A1

Linked Data

• ClinVar Variation Id: 385439
• ClinVar RCV Id: RCV003932632 ; RCV001720243
• dbSNP Id: rs146125922
• ExAC: 12:120878259 G / A
• gnomAD v2: 12-120878259-G-A
• gnomAD v3: 12-120440456-G-A
• gnomAD v4: 12-120440456-G-A
• MyVariant Identifiers: chr12:g.120878259G>A (hg19) ; chr12:g.120440456G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120440456G>A , CM000674.2:g.120440456G>A	GRCh38
NC_000012.11:g.120878259G>A , CM000674.1:g.120878259G>A	GRCh37
NC_000012.10:g.119362642G>A	NCBI36
NG_034299.1:g.7367G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229379.3:c.249G>A MANE Select	ENSP00000229379.2:p.Pro83=
ENST00000229379.2:c.249G>A	ENSP00000229379.2:p.Pro83=
ENST00000549525.1:n.486G>A
ENST00000551806.1:c.175+1935G>A
NM_004373.3:c.249G>A	NP_004364.2:p.Pro83=
NM_004373.4:c.249G>A MANE Select	NP_004364.2:p.Pro83=