Canonical Allele Identifier: CA363507573

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1271171290
• gnomAD v2: 6-32007971-C-T
• gnomAD v4: 6-32040194-C-T
• MyVariant Identifiers: chr6:g.32007971C>T (hg19) ; chr6:g.32040194C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040194C>T , CM000668.2:g.32040194C>T	GRCh38
NC_000006.11:g.32007971C>T , CM000668.1:g.32007971C>T	GRCh37
NC_000006.10:g.32115950C>T	NCBI36
NG_007941.2:g.6887C>T
NG_008337.2:g.74181G>A
NG_007941.3:g.6890C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.928C>T MANE Select	ENSP00000496625.1:p.His310Tyr
ENST00000418967.6:c.928C>T	ENSP00000408860.2:p.His310Tyr
ENST00000435122.3:c.838C>T	ENSP00000415043.2:p.His280Tyr
ENST00000479074.5:n.986C>T
ENST00000479730.5:n.1044C>T
ENST00000483041.5:n.1097C>T
ENST00000486063.5:n.919-212C>T
NM_000500.7:c.928C>T	NP_000491.4:p.His310Tyr
NM_001128590.3:c.838C>T	NP_001122062.3:p.His280Tyr
XM_011514314.1:c.523C>T	XP_011512616.1:p.His175Tyr
NM_000500.9:c.928C>T MANE Select	NP_000491.4:p.His310Tyr
NM_001368143.1:c.523C>T	NP_001355072.1:p.His175Tyr
NM_001368144.1:c.523C>T	NP_001355073.1:p.His175Tyr
NM_001128590.4:c.838C>T	NP_001122062.3:p.His280Tyr
NM_001368143.2:c.523C>T	NP_001355072.1:p.His175Tyr
NM_001368144.2:c.523C>T	NP_001355073.1:p.His175Tyr