Canonical Allele Identifier: CA3732455

Gene: CYP21A2

Linked Data

• dbSNP Id: rs764468228
• ExAC: 6:32007411 T / C
• gnomAD v2: 6-32007411-T-C
• gnomAD v3: 6-32039634-T-C
• gnomAD v4: 6-32039634-T-C
• MyVariant Identifiers: chr6:g.32007411T>C (hg19) ; chr6:g.32039634T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039634T>C , CM000668.2:g.32039634T>C	GRCh38
NC_000006.11:g.32007411T>C , CM000668.1:g.32007411T>C	GRCh37
NC_000006.10:g.32115390T>C	NCBI36
NG_007941.2:g.6327T>C
NG_008337.2:g.74741A>G
NG_007941.3:g.6330T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.638T>C MANE Select	ENSP00000496625.1:p.Ile213Thr
ENST00000418967.6:c.638T>C	ENSP00000408860.2:p.Ile213Thr
ENST00000435122.3:c.548T>C	ENSP00000415043.2:p.Ile183Thr
ENST00000462278.1:n.226T>C
ENST00000464325.5:n.559T>C
ENST00000466779.5:c.*330T>C	ENSP00000417321.1:n.*330T>C
ENST00000466879.5:n.689T>C
ENST00000469053.5:c.*330T>C	ENSP00000418104.1:n.*330T>C
ENST00000479074.5:n.696T>C
ENST00000479730.5:n.754T>C
ENST00000483041.5:n.807T>C
ENST00000486063.5:n.818T>C
NM_000500.7:c.638T>C	NP_000491.4:p.Ile213Thr
NM_001128590.3:c.548T>C	NP_001122062.3:p.Ile183Thr
XM_011514314.1:c.233T>C	XP_011512616.1:p.Ile78Thr
NM_000500.9:c.638T>C MANE Select	NP_000491.4:p.Ile213Thr
NM_001368143.1:c.233T>C	NP_001355072.1:p.Ile78Thr
NM_001368144.1:c.233T>C	NP_001355073.1:p.Ile78Thr
NM_001128590.4:c.548T>C	NP_001122062.3:p.Ile183Thr
NM_001368143.2:c.233T>C	NP_001355072.1:p.Ile78Thr
NM_001368144.2:c.233T>C	NP_001355073.1:p.Ile78Thr