Canonical Allele Identifier: CA449728752

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1230867335
• gnomAD v4: 6-32039146-G-T
• MyVariant Identifiers: chr6:g.32006923G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039146G>T , CM000668.2:g.32039146G>T	GRCh38
NC_000006.11:g.32006923G>T , CM000668.1:g.32006923G>T	GRCh37
NC_000006.10:g.32114902G>T	NCBI36
NG_007941.2:g.5839G>T
NG_007941.3:g.5842G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.345G>T MANE Select	ENSP00000496625.1:p.Leu115=
ENST00000418967.6:c.345G>T	ENSP00000408860.2:p.Leu115=
ENST00000435122.3:c.255G>T	ENSP00000415043.2:p.Leu85=
ENST00000464325.5:n.266G>T
ENST00000466779.5:c.*37G>T	ENSP00000417321.1:n.*37G>T
ENST00000466879.5:n.396G>T
ENST00000469053.5:c.*37G>T	ENSP00000418104.1:n.*37G>T
ENST00000471671.4:c.345G>T	ENSP00000418561.1:p.Leu115=
ENST00000478281.5:c.378G>T	ENSP00000419572.1:p.Leu126=
ENST00000479074.5:n.403G>T
ENST00000479730.5:n.500G>T
ENST00000483041.5:n.514G>T
ENST00000486063.5:n.525G>T
ENST00000488465.1:n.353G>T
NM_000500.7:c.345G>T	NP_000491.4:p.Leu115=
NM_001128590.3:c.255G>T	NP_001122062.3:p.Leu85=
XM_011514314.1:c.-61G>T	XP_011512616.1:n.-61G>T
NM_000500.9:c.345G>T MANE Select	NP_000491.4:p.Leu115=
NM_001368143.1:c.-61G>T	NP_001355072.1:n.-61G>T
NM_001368144.1:c.-61G>T	NP_001355073.1:n.-61G>T
NM_001128590.4:c.255G>T	NP_001122062.3:p.Leu85=
NM_001368143.2:c.-61G>T	NP_001355072.1:n.-61G>T
NM_001368144.2:c.-61G>T	NP_001355073.1:n.-61G>T