Canonical Allele Identifier: CA3732525

Gene: CYP21A2

Linked Data

• dbSNP Id: rs374056854
• ExAC: 6:32007762 G / T
• gnomAD v2: 6-32007762-G-T
• gnomAD v3: 6-32039985-G-T
• gnomAD v4: 6-32039985-G-T
• MyVariant Identifiers: chr6:g.32007762G>T (hg19) ; chr6:g.32039985G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039985G>T , CM000668.2:g.32039985G>T	GRCh38
NC_000006.11:g.32007762G>T , CM000668.1:g.32007762G>T	GRCh37
NC_000006.10:g.32115741G>T	NCBI36
NG_007941.2:g.6678G>T
NG_008337.2:g.74390C>A
NG_007941.3:g.6681G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.739-20G>T MANE Select	ENSP00000496625.1:n.739-20G>T
ENST00000418967.6:c.739-20G>T	ENSP00000408860.2:n.739-20G>T
ENST00000435122.3:c.649-20G>T	ENSP00000415043.2:n.649-20G>T
ENST00000479074.5:n.797-20G>T
ENST00000479730.5:n.855-20G>T
ENST00000483041.5:n.908-20G>T
ENST00000486063.5:n.918+150G>T
NM_000500.7:c.739-20G>T	NP_000491.4:n.739-20G>T
NM_001128590.3:c.649-20G>T	NP_001122062.3:n.649-20G>T
XM_011514314.1:c.334-20G>T	XP_011512616.1:n.334-20G>T
NM_000500.9:c.739-20G>T MANE Select	NP_000491.4:n.739-20G>T
NM_001368143.1:c.334-20G>T	NP_001355072.1:n.334-20G>T
NM_001368144.1:c.334-20G>T	NP_001355073.1:n.334-20G>T
NM_001128590.4:c.649-20G>T	NP_001122062.3:n.649-20G>T
NM_001368143.2:c.334-20G>T	NP_001355072.1:n.334-20G>T
NM_001368144.2:c.334-20G>T	NP_001355073.1:n.334-20G>T