Canonical Allele Identifier: CA363502720

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1776089733
• gnomAD v3: 6-32039387-C-T
• gnomAD v4: 6-32039387-C-T
• MyVariant Identifiers: chr6:g.32007164C>T (hg19) ; chr6:g.32039387C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039387C>T , CM000668.2:g.32039387C>T	GRCh38
NC_000006.11:g.32007164C>T , CM000668.1:g.32007164C>T	GRCh37
NC_000006.10:g.32115143C>T	NCBI36
NG_007941.2:g.6080C>T
NG_008337.2:g.74988G>A
NG_007941.3:g.6083C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.479C>T MANE Select	ENSP00000496625.1:p.Ala160Val
ENST00000418967.6:c.479C>T	ENSP00000408860.2:p.Ala160Val
ENST00000435122.3:c.389C>T	ENSP00000415043.2:p.Ala130Val
ENST00000462278.1:n.67C>T
ENST00000464325.5:n.400C>T
ENST00000466779.5:c.*171C>T	ENSP00000417321.1:n.*171C>T
ENST00000466879.5:n.530C>T
ENST00000469053.5:c.*171C>T	ENSP00000418104.1:n.*171C>T
ENST00000471671.4:c.479C>T	ENSP00000418561.1:p.Ala160Val
ENST00000478281.5:c.512C>T	ENSP00000419572.1:p.Ala171Val
ENST00000479074.5:n.537C>T
ENST00000479730.5:n.634C>T
ENST00000483041.5:n.648C>T
ENST00000486063.5:n.659C>T
ENST00000488465.1:n.487C>T
NM_000500.7:c.479C>T	NP_000491.4:p.Ala160Val
NM_001128590.3:c.389C>T	NP_001122062.3:p.Ala130Val
XM_011514314.1:c.74C>T	XP_011512616.1:p.Ala25Val
NM_000500.9:c.479C>T MANE Select	NP_000491.4:p.Ala160Val
NM_001368143.1:c.74C>T	NP_001355072.1:p.Ala25Val
NM_001368144.1:c.74C>T	NP_001355073.1:p.Ala25Val
NM_001128590.4:c.389C>T	NP_001122062.3:p.Ala130Val
NM_001368143.2:c.74C>T	NP_001355072.1:p.Ala25Val
NM_001368144.2:c.74C>T	NP_001355073.1:p.Ala25Val