Canonical Allele Identifier: CA449818570

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1347353531
• gnomAD v3: 6-32038602-C-T
• gnomAD v4: 6-32038602-C-T
• MyVariant Identifiers: chr6:g.32006379C>T (hg19) ; chr6:g.32038602C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038602C>T , CM000668.2:g.32038602C>T	GRCh38
NC_000006.11:g.32006379C>T , CM000668.1:g.32006379C>T	GRCh37
NC_000006.10:g.32114358C>T	NCBI36
NG_007941.2:g.5295C>T
NG_007941.3:g.5298C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.180C>T MANE Select	ENSP00000496625.1:p.Tyr60=
ENST00000418967.6:c.180C>T	ENSP00000408860.2:p.Tyr60=
ENST00000435122.3:c.180C>T	ENSP00000415043.2:p.Tyr60=
ENST00000464325.5:n.20C>T
ENST00000466779.5:c.180C>T	ENSP00000417321.1:p.Tyr60=
ENST00000469053.5:c.180C>T	ENSP00000418104.1:p.Tyr60=
ENST00000471671.4:c.180C>T	ENSP00000418561.1:p.Tyr60=
ENST00000478281.5:c.180C>T	ENSP00000419572.1:p.Tyr60=
ENST00000479074.5:n.238C>T
ENST00000479730.5:n.238C>T
ENST00000480027.1:n.233C>T
ENST00000483041.5:n.233C>T
ENST00000486063.5:n.263C>T
ENST00000488465.1:n.188C>T
NM_000500.7:c.180C>T	NP_000491.4:p.Tyr60=
NM_001128590.3:c.180C>T	NP_001122062.3:p.Tyr60=
XM_011514314.1:c.-245C>T	XP_011512616.1:n.-245C>T
NM_000500.9:c.180C>T MANE Select	NP_000491.4:p.Tyr60=
NM_001368143.1:c.-245C>T	NP_001355072.1:n.-245C>T
NM_001368144.1:c.-155C>T	NP_001355073.1:n.-155C>T
NM_001128590.4:c.180C>T	NP_001122062.3:p.Tyr60=
NM_001368143.2:c.-245C>T	NP_001355072.1:n.-245C>T
NM_001368144.2:c.-155C>T	NP_001355073.1:n.-155C>T