Canonical Allele Identifier: CA2678091334

Gene: CYP21A2 TNXB

Linked Data

• gnomAD v4: 6-32041234-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041234C>A , CM000668.2:g.32041234C>A	GRCh38
NC_000006.11:g.32009011C>A , CM000668.1:g.32009011C>A	GRCh37
NC_000006.10:g.32116990C>A	NCBI36
NG_007941.2:g.7927C>A
NG_008337.2:g.73141G>T
NG_007941.3:g.7930C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.*100C>A (CYP21A2) MANE Select	ENSP00000496625.1:n.*100C>A
ENST00000644971.2:c.*115G>T (TNXB) MANE Select	ENSP00000496448.1:n.*115G>T
ENST00000647633.1:c.*115G>T (TNXB)	ENSP00000497649.1:n.*115G>T
ENST00000375244.7:c.*115G>T (TNXB)	ENSP00000364393.3:n.*115G>T
ENST00000418967.6:c.*100C>A (CYP21A2)	ENSP00000408860.2:n.*100C>A
ENST00000435122.3:c.*100C>A (CYP21A2)	ENSP00000415043.2:n.*100C>A
ENST00000451343.4:c.*115G>T (TNXB)	ENSP00000407685.1:n.*115G>T
ENST00000479074.5:n.1729C>A (CYP21A2)
ENST00000479730.5:n.1704C>A (CYP21A2)
ENST00000486063.5:n.1567C>A (CYP21A2)
ENST00000490077.5:n.2677G>T (TNXB)
ENST00000611016.2:c.6004G>T (TNXB)	ENSP00000483409.1:n.6004G>T
NM_000500.7:c.*100C>A (CYP21A2)	NP_000491.4:n.*100C>A
NM_001128590.3:c.*100C>A (CYP21A2)	NP_001122062.3:n.*100C>A
NM_019105.6:c.*115G>T (TNXB)	NP_061978.6:n.*115G>T
NM_032470.3:c.*115G>T (TNXB)	NP_115859.2:n.*115G>T
XM_011514314.1:c.*100C>A (CYP21A2)	XP_011512616.1:n.*100C>A
NM_000500.9:c.*100C>A (CYP21A2) MANE Select	NP_000491.4:n.*100C>A
NM_001365276.1:c.*115G>T (TNXB)	NP_001352205.1:n.*115G>T
NM_019105.7:c.*115G>T (TNXB)	NP_061978.6:n.*115G>T
NM_001365276.2:c.*115G>T (TNXB) MANE Select	NP_001352205.1:n.*115G>T
NM_001368143.1:c.*100C>A (CYP21A2)	NP_001355072.1:n.*100C>A
NM_001368144.1:c.*100C>A (CYP21A2)	NP_001355073.1:n.*100C>A
NM_019105.8:c.*115G>T (TNXB)	NP_061978.6:n.*115G>T
NM_001128590.4:c.*100C>A (CYP21A2)	NP_001122062.3:n.*100C>A
NM_001368143.2:c.*100C>A (CYP21A2)	NP_001355072.1:n.*100C>A
NM_001368144.2:c.*100C>A (CYP21A2)	NP_001355073.1:n.*100C>A
NM_032470.4:c.*115G>T (TNXB)	NP_115859.2:n.*115G>T