Canonical Allele Identifier: CA363505457

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1776151161
• gnomAD v4: 6-32039827-C-T
• MyVariant Identifiers: chr6:g.32007604C>T (hg19) ; chr6:g.32039827C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039827C>T , CM000668.2:g.32039827C>T	GRCh38
NC_000006.11:g.32007604C>T , CM000668.1:g.32007604C>T	GRCh37
NC_000006.10:g.32115583C>T	NCBI36
NG_007941.2:g.6520C>T
NG_008337.2:g.74548G>A
NG_007941.3:g.6523C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.730C>T MANE Select	ENSP00000496625.1:p.Gln244Ter
ENST00000418967.6:c.730C>T	ENSP00000408860.2:p.Gln244Ter
ENST00000435122.3:c.640C>T	ENSP00000415043.2:p.Gln214Ter
ENST00000462278.1:n.419C>T
ENST00000479074.5:n.788C>T
ENST00000479730.5:n.846C>T
ENST00000483041.5:n.899C>T
ENST00000486063.5:n.910C>T
NM_000500.7:c.730C>T	NP_000491.4:p.Gln244Ter
NM_001128590.3:c.640C>T	NP_001122062.3:p.Gln214Ter
XM_011514314.1:c.325C>T	XP_011512616.1:p.Gln109Ter
NM_000500.9:c.730C>T MANE Select	NP_000491.4:p.Gln244Ter
NM_001368143.1:c.325C>T	NP_001355072.1:p.Gln109Ter
NM_001368144.1:c.325C>T	NP_001355073.1:p.Gln109Ter
NM_001128590.4:c.640C>T	NP_001122062.3:p.Gln214Ter
NM_001368143.2:c.325C>T	NP_001355072.1:p.Gln109Ter
NM_001368144.2:c.325C>T	NP_001355073.1:p.Gln109Ter