Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041550C>T , CM000668.2:g.32041550C>T	GRCh38
NC_000006.11:g.32009327C>T , CM000668.1:g.32009327C>T	GRCh37
NC_000006.10:g.32117306C>T	NCBI36
NG_007941.2:g.8243C>T
NG_008337.2:g.72825G>A
NG_007941.3:g.8246C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.*416C>T (CYP21A2) MANE Select	ENSP00000496625.1:n.*416C>T
ENST00000644971.2:c.12634-100G>A (TNXB) MANE Select	ENSP00000496448.1:n.12634-100G>A
ENST00000647633.1:c.13375-100G>A (TNXB)	ENSP00000497649.1:n.13375-100G>A
ENST00000375244.7:c.12634-100G>A (TNXB)	ENSP00000364393.3:n.12634-100G>A
ENST00000418967.6:c.*416C>T (CYP21A2)	ENSP00000408860.2:n.*416C>T
ENST00000435122.3:c.*416C>T (CYP21A2)	ENSP00000415043.2:n.*416C>T
ENST00000451343.4:c.1921-100G>A (TNXB)	ENSP00000407685.1:n.1921-100G>A
ENST00000479074.5:n.2045C>T (CYP21A2)
ENST00000479730.5:n.2020C>T (CYP21A2)
ENST00000486063.5:n.1883C>T (CYP21A2)
ENST00000490077.5:n.2461-100G>A (TNXB)
ENST00000611016.2:c.5788-100G>A (TNXB)	ENSP00000483409.1:n.5788-100G>A
NM_000500.7:c.*416C>T (CYP21A2)	NP_000491.4:n.*416C>T
NM_001128590.3:c.*416C>T (CYP21A2)	NP_001122062.3:n.*416C>T
NM_019105.6:c.12628-100G>A (TNXB)	NP_061978.6:n.12628-100G>A
NM_032470.3:c.1921-100G>A (TNXB)	NP_115859.2:n.1921-100G>A
XM_011514314.1:c.*416C>T (CYP21A2)	XP_011512616.1:n.*416C>T
NM_000500.9:c.*416C>T (CYP21A2) MANE Select	NP_000491.4:n.*416C>T
NM_001365276.1:c.12634-100G>A (TNXB)	NP_001352205.1:n.12634-100G>A
NM_019105.7:c.12628-100G>A (TNXB)	NP_061978.6:n.12628-100G>A
NM_001365276.2:c.12634-100G>A (TNXB) MANE Select	NP_001352205.1:n.12634-100G>A
NM_001368143.1:c.*416C>T (CYP21A2)	NP_001355072.1:n.*416C>T
NM_001368144.1:c.*416C>T (CYP21A2)	NP_001355073.1:n.*416C>T
NM_019105.8:c.12628-100G>A (TNXB)	NP_061978.6:n.12628-100G>A
NM_001128590.4:c.*416C>T (CYP21A2)	NP_001122062.3:n.*416C>T
NM_001368143.2:c.*416C>T (CYP21A2)	NP_001355072.1:n.*416C>T
NM_001368144.2:c.*416C>T (CYP21A2)	NP_001355073.1:n.*416C>T
NM_032470.4:c.1921-100G>A (TNXB)	NP_115859.2:n.1921-100G>A