Canonical Allele Identifier: CA363510976

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32008265C>T (hg19) ; chr6:g.32040488C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040488C>T , CM000668.2:g.32040488C>T	GRCh38
NC_000006.11:g.32008265C>T , CM000668.1:g.32008265C>T	GRCh37
NC_000006.10:g.32116244C>T	NCBI36
NG_007941.2:g.7181C>T
NG_008337.2:g.73887G>A
NG_007941.3:g.7184C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1022C>T MANE Select	ENSP00000496625.1:p.Ala341Val
ENST00000418967.6:c.1022C>T	ENSP00000408860.2:p.Ala341Val
ENST00000435122.3:c.932C>T	ENSP00000415043.2:p.Ala311Val
ENST00000479074.5:n.1080C>T
ENST00000479730.5:n.1138C>T
ENST00000483041.5:n.1191C>T
ENST00000486063.5:n.1001C>T
NM_000500.7:c.1022C>T	NP_000491.4:p.Ala341Val
NM_001128590.3:c.932C>T	NP_001122062.3:p.Ala311Val
XM_011514314.1:c.617C>T	XP_011512616.1:p.Ala206Val
NM_000500.9:c.1022C>T MANE Select	NP_000491.4:p.Ala341Val
NM_001368143.1:c.617C>T	NP_001355072.1:p.Ala206Val
NM_001368144.1:c.617C>T	NP_001355073.1:p.Ala206Val
NM_001128590.4:c.932C>T	NP_001122062.3:p.Ala311Val
NM_001368143.2:c.617C>T	NP_001355072.1:p.Ala206Val
NM_001368144.2:c.617C>T	NP_001355073.1:p.Ala206Val