Canonical Allele Identifier: CA363511259

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1776252987
• gnomAD v4: 6-32040690-G-A
• MyVariant Identifiers: chr6:g.32008467G>A (hg19) ; chr6:g.32040690G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040690G>A , CM000668.2:g.32040690G>A	GRCh38
NC_000006.11:g.32008467G>A , CM000668.1:g.32008467G>A	GRCh37
NC_000006.10:g.32116446G>A	NCBI36
NG_007941.2:g.7383G>A
NG_008337.2:g.73685C>T
NG_007941.3:g.7386G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1141G>A MANE Select	ENSP00000496625.1:p.Glu381Lys
ENST00000418967.6:c.1141G>A	ENSP00000408860.2:p.Glu381Lys
ENST00000435122.3:c.1051G>A	ENSP00000415043.2:p.Glu351Lys
ENST00000479074.5:n.1282G>A
ENST00000479730.5:n.1257G>A
ENST00000483041.5:n.1310G>A
ENST00000486063.5:n.1120G>A
NM_000500.7:c.1141G>A	NP_000491.4:p.Glu381Lys
NM_001128590.3:c.1051G>A	NP_001122062.3:p.Glu351Lys
XM_011514314.1:c.736G>A	XP_011512616.1:p.Glu246Lys
NM_000500.9:c.1141G>A MANE Select	NP_000491.4:p.Glu381Lys
NM_001368143.1:c.736G>A	NP_001355072.1:p.Glu246Lys
NM_001368144.1:c.736G>A	NP_001355073.1:p.Glu246Lys
NM_001128590.4:c.1051G>A	NP_001122062.3:p.Glu351Lys
NM_001368143.2:c.736G>A	NP_001355072.1:p.Glu246Lys
NM_001368144.2:c.736G>A	NP_001355073.1:p.Glu246Lys