Canonical Allele Identifier: CA363501296

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32006954T>G (hg19) ; chr6:g.32039177T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039177T>G , CM000668.2:g.32039177T>G	GRCh38
NC_000006.11:g.32006954T>G , CM000668.1:g.32006954T>G	GRCh37
NC_000006.10:g.32114933T>G	NCBI36
NG_007941.2:g.5870T>G
NG_008337.2:g.75198A>C
NG_007941.3:g.5873T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.376T>G MANE Select	ENSP00000496625.1:p.Ser126Ala
ENST00000418967.6:c.376T>G	ENSP00000408860.2:p.Ser126Ala
ENST00000435122.3:c.286T>G	ENSP00000415043.2:p.Ser96Ala
ENST00000464325.5:n.297T>G
ENST00000466779.5:c.*68T>G	ENSP00000417321.1:n.*68T>G
ENST00000466879.5:n.427T>G
ENST00000469053.5:c.*68T>G	ENSP00000418104.1:n.*68T>G
ENST00000471671.4:c.376T>G	ENSP00000418561.1:p.Ser126Ala
ENST00000478281.5:c.409T>G	ENSP00000419572.1:p.Ser137Ala
ENST00000479074.5:n.434T>G
ENST00000479730.5:n.531T>G
ENST00000483041.5:n.545T>G
ENST00000486063.5:n.556T>G
ENST00000488465.1:n.384T>G
NM_000500.7:c.376T>G	NP_000491.4:p.Ser126Ala
NM_001128590.3:c.286T>G	NP_001122062.3:p.Ser96Ala
XM_011514314.1:c.-30T>G	XP_011512616.1:n.-30T>G
NM_000500.9:c.376T>G MANE Select	NP_000491.4:p.Ser126Ala
NM_001368143.1:c.-30T>G	NP_001355072.1:n.-30T>G
NM_001368144.1:c.-30T>G	NP_001355073.1:n.-30T>G
NM_001128590.4:c.286T>G	NP_001122062.3:p.Ser96Ala
NM_001368143.2:c.-30T>G	NP_001355072.1:n.-30T>G
NM_001368144.2:c.-30T>G	NP_001355073.1:n.-30T>G