Canonical Allele Identifier: CA363510937

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32008258G>T (hg19) ; chr6:g.32040481G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040481G>T , CM000668.2:g.32040481G>T	GRCh38
NC_000006.11:g.32008258G>T , CM000668.1:g.32008258G>T	GRCh37
NC_000006.10:g.32116237G>T	NCBI36
NG_007941.2:g.7174G>T
NG_008337.2:g.73894C>A
NG_007941.3:g.7177G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1015G>T MANE Select	ENSP00000496625.1:p.Asp339Tyr
ENST00000418967.6:c.1015G>T	ENSP00000408860.2:p.Asp339Tyr
ENST00000435122.3:c.925G>T	ENSP00000415043.2:p.Asp309Tyr
ENST00000479074.5:n.1073G>T
ENST00000479730.5:n.1131G>T
ENST00000483041.5:n.1184G>T
ENST00000486063.5:n.994G>T
NM_000500.7:c.1015G>T	NP_000491.4:p.Asp339Tyr
NM_001128590.3:c.925G>T	NP_001122062.3:p.Asp309Tyr
XM_011514314.1:c.610G>T	XP_011512616.1:p.Asp204Tyr
NM_000500.9:c.1015G>T MANE Select	NP_000491.4:p.Asp339Tyr
NM_001368143.1:c.610G>T	NP_001355072.1:p.Asp204Tyr
NM_001368144.1:c.610G>T	NP_001355073.1:p.Asp204Tyr
NM_001128590.4:c.925G>T	NP_001122062.3:p.Asp309Tyr
NM_001368143.2:c.610G>T	NP_001355072.1:p.Asp204Tyr
NM_001368144.2:c.610G>T	NP_001355073.1:p.Asp204Tyr