Canonical Allele Identifier: CA3732759

Gene: CYP21A2 TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041353C>A , CM000668.2:g.32041353C>A	GRCh38
NC_000006.11:g.32009130C>A , CM000668.1:g.32009130C>A	GRCh37
NC_000006.10:g.32117109C>A	NCBI36
NG_007941.2:g.8046C>A
NG_008337.2:g.73022G>T
NG_007941.3:g.8049C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.*219C>A (CYP21A2) MANE Select	ENSP00000496625.1:n.*219C>A
ENST00000644971.2:c.12731G>T (TNXB) MANE Select	ENSP00000496448.1:p.Gly4244Val
ENST00000647633.1:c.13472G>T (TNXB)	ENSP00000497649.1:p.Gly4491Val
ENST00000375244.7:c.12731G>T (TNXB)	ENSP00000364393.3:p.Gly4244Val
ENST00000418967.6:c.*219C>A (CYP21A2)	ENSP00000408860.2:n.*219C>A
ENST00000435122.3:c.*219C>A (CYP21A2)	ENSP00000415043.2:n.*219C>A
ENST00000451343.4:c.2018G>T (TNXB)	ENSP00000407685.1:p.Gly673Val
ENST00000479074.5:n.1848C>A (CYP21A2)
ENST00000479730.5:n.1823C>A (CYP21A2)
ENST00000486063.5:n.1686C>A (CYP21A2)
ENST00000490077.5:n.2558G>T (TNXB)
ENST00000611016.2:c.5885G>T (TNXB)	ENSP00000483409.1:p.Gly1962Val
NM_000500.7:c.*219C>A (CYP21A2)	NP_000491.4:n.*219C>A
NM_001128590.3:c.*219C>A (CYP21A2)	NP_001122062.3:n.*219C>A
NM_019105.6:c.12725G>T (TNXB)	NP_061978.6:p.Gly4242Val
NM_032470.3:c.2018G>T (TNXB)	NP_115859.2:p.Gly673Val
XM_011514314.1:c.*219C>A (CYP21A2)	XP_011512616.1:n.*219C>A
NM_000500.9:c.*219C>A (CYP21A2) MANE Select	NP_000491.4:n.*219C>A
NM_001365276.1:c.12731G>T (TNXB)	NP_001352205.1:p.Gly4244Val
NM_019105.7:c.12725G>T (TNXB)	NP_061978.6:p.Gly4242Val
NM_001365276.2:c.12731G>T (TNXB) MANE Select	NP_001352205.1:p.Gly4244Val
NM_001368143.1:c.*219C>A (CYP21A2)	NP_001355072.1:n.*219C>A
NM_001368144.1:c.*219C>A (CYP21A2)	NP_001355073.1:n.*219C>A
NM_019105.8:c.12725G>T (TNXB)	NP_061978.6:p.Gly4242Val
NM_001128590.4:c.*219C>A (CYP21A2)	NP_001122062.3:n.*219C>A
NM_001368143.2:c.*219C>A (CYP21A2)	NP_001355072.1:n.*219C>A
NM_001368144.2:c.*219C>A (CYP21A2)	NP_001355073.1:n.*219C>A
NM_032470.4:c.2018G>T (TNXB)	NP_115859.2:p.Gly673Val