Canonical Allele Identifier: CA3732251

Gene: CYP21A2

Linked Data

• dbSNP Id: rs769760438
• ExAC: 6:32006176 C / A
• gnomAD v2: 6-32006176-C-A
• gnomAD v4: 6-32038399-C-A
• MyVariant Identifiers: chr6:g.32006176C>A (hg19) ; chr6:g.32038399C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038399C>A , CM000668.2:g.32038399C>A	GRCh38
NC_000006.11:g.32006176C>A , CM000668.1:g.32006176C>A	GRCh37
NC_000006.10:g.32114155C>A	NCBI36
NG_007941.2:g.5095C>A
NG_007941.3:g.5095C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418967.6:c.-24C>A	ENSP00000408860.2:n.-24C>A
ENST00000466779.5:c.-24C>A	ENSP00000417321.1:n.-24C>A
ENST00000478281.5:c.-24C>A	ENSP00000419572.1:n.-24C>A
ENST00000479074.5:n.35C>A
ENST00000479730.5:n.35C>A
ENST00000480027.1:n.30C>A
ENST00000483041.5:n.30C>A
ENST00000486063.5:n.60C>A
NM_000500.7:c.-24C>A	NP_000491.4:n.-24C>A
NM_001128590.3:c.-24C>A	NP_001122062.3:n.-24C>A
XM_011514314.1:c.-448C>A	XP_011512616.1:n.-448C>A
NM_001368143.1:c.-448C>A	NP_001355072.1:n.-448C>A
NM_001368144.1:c.-358C>A	NP_001355073.1:n.-358C>A