Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041502T>C , CM000668.2:g.32041502T>C	GRCh38
NC_000006.11:g.32009279T>C , CM000668.1:g.32009279T>C	GRCh37
NC_000006.10:g.32117258T>C	NCBI36
NG_007941.2:g.8195T>C
NG_008337.2:g.72873A>G
NG_007941.3:g.8198T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.*368T>C (CYP21A2) MANE Select	ENSP00000496625.1:n.*368T>C
ENST00000644971.2:c.12634-52A>G (TNXB) MANE Select	ENSP00000496448.1:n.12634-52A>G
ENST00000647633.1:c.13375-52A>G (TNXB)	ENSP00000497649.1:n.13375-52A>G
ENST00000375244.7:c.12634-52A>G (TNXB)	ENSP00000364393.3:n.12634-52A>G
ENST00000418967.6:c.*368T>C (CYP21A2)	ENSP00000408860.2:n.*368T>C
ENST00000435122.3:c.*368T>C (CYP21A2)	ENSP00000415043.2:n.*368T>C
ENST00000451343.4:c.1921-52A>G (TNXB)	ENSP00000407685.1:n.1921-52A>G
ENST00000479074.5:n.1997T>C (CYP21A2)
ENST00000479730.5:n.1972T>C (CYP21A2)
ENST00000486063.5:n.1835T>C (CYP21A2)
ENST00000490077.5:n.2461-52A>G (TNXB)
ENST00000611016.2:c.5788-52A>G (TNXB)	ENSP00000483409.1:n.5788-52A>G
NM_000500.7:c.*368T>C (CYP21A2)	NP_000491.4:n.*368T>C
NM_001128590.3:c.*368T>C (CYP21A2)	NP_001122062.3:n.*368T>C
NM_019105.6:c.12628-52A>G (TNXB)	NP_061978.6:n.12628-52A>G
NM_032470.3:c.1921-52A>G (TNXB)	NP_115859.2:n.1921-52A>G
XM_011514314.1:c.*368T>C (CYP21A2)	XP_011512616.1:n.*368T>C
NM_000500.9:c.*368T>C (CYP21A2) MANE Select	NP_000491.4:n.*368T>C
NM_001365276.1:c.12634-52A>G (TNXB)	NP_001352205.1:n.12634-52A>G
NM_019105.7:c.12628-52A>G (TNXB)	NP_061978.6:n.12628-52A>G
NM_001365276.2:c.12634-52A>G (TNXB) MANE Select	NP_001352205.1:n.12634-52A>G
NM_001368143.1:c.*368T>C (CYP21A2)	NP_001355072.1:n.*368T>C
NM_001368144.1:c.*368T>C (CYP21A2)	NP_001355073.1:n.*368T>C
NM_019105.8:c.12628-52A>G (TNXB)	NP_061978.6:n.12628-52A>G
NM_001128590.4:c.*368T>C (CYP21A2)	NP_001122062.3:n.*368T>C
NM_001368143.2:c.*368T>C (CYP21A2)	NP_001355072.1:n.*368T>C
NM_001368144.2:c.*368T>C (CYP21A2)	NP_001355073.1:n.*368T>C
NM_032470.4:c.1921-52A>G (TNXB)	NP_115859.2:n.1921-52A>G