Canonical Allele Identifier: CA3732475

Gene: CYP21A2

Linked Data

• dbSNP Id: rs369078592
• ExAC: 6:32007487 C / T
• gnomAD v2: 6-32007487-C-T
• gnomAD v3: 6-32039710-C-T
• gnomAD v4: 6-32039710-C-T
• MyVariant Identifiers: chr6:g.32007487C>T (hg19) ; chr6:g.32039710C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039710C>T , CM000668.2:g.32039710C>T	GRCh38
NC_000006.11:g.32007487C>T , CM000668.1:g.32007487C>T	GRCh37
NC_000006.10:g.32115466C>T	NCBI36
NG_007941.2:g.6403C>T
NG_008337.2:g.74665G>A
NG_007941.3:g.6406C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.652-39C>T MANE Select	ENSP00000496625.1:n.652-39C>T
ENST00000418967.6:c.652-39C>T	ENSP00000408860.2:n.652-39C>T
ENST00000435122.3:c.562-39C>T	ENSP00000415043.2:n.562-39C>T
ENST00000462278.1:n.302C>T
ENST00000464325.5:n.573-39C>T
ENST00000466779.5:c.*344-39C>T	ENSP00000417321.1:n.*344-39C>T
ENST00000466879.5:n.703-39C>T
ENST00000479074.5:n.710-39C>T
ENST00000479730.5:n.768-39C>T
ENST00000483041.5:n.821-39C>T
ENST00000486063.5:n.832-39C>T
NM_000500.7:c.652-39C>T	NP_000491.4:n.652-39C>T
NM_001128590.3:c.562-39C>T	NP_001122062.3:n.562-39C>T
XM_011514314.1:c.247-39C>T	XP_011512616.1:n.247-39C>T
NM_000500.9:c.652-39C>T MANE Select	NP_000491.4:n.652-39C>T
NM_001368143.1:c.247-39C>T	NP_001355072.1:n.247-39C>T
NM_001368144.1:c.247-39C>T	NP_001355073.1:n.247-39C>T
NM_001128590.4:c.562-39C>T	NP_001122062.3:n.562-39C>T
NM_001368143.2:c.247-39C>T	NP_001355072.1:n.247-39C>T
NM_001368144.2:c.247-39C>T	NP_001355073.1:n.247-39C>T