Canonical Allele Identifier: CA363511665

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 3030523
• ClinVar RCV Id: RCV003901722
• MyVariant Identifiers: chr6:g.32008649G>T (hg19) ; chr6:g.32040872G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040872G>T , CM000668.2:g.32040872G>T	GRCh38
NC_000006.11:g.32008649G>T , CM000668.1:g.32008649G>T	GRCh37
NC_000006.10:g.32116628G>T	NCBI36
NG_007941.2:g.7565G>T
NG_008337.2:g.73503C>A
NG_007941.3:g.7568G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1226G>T MANE Select	ENSP00000496625.1:p.Arg409Leu
ENST00000418967.6:c.1226G>T	ENSP00000408860.2:p.Arg409Leu
ENST00000435122.3:c.1136G>T	ENSP00000415043.2:p.Arg379Leu
ENST00000479074.5:n.1367G>T
ENST00000479730.5:n.1342G>T
ENST00000483041.5:n.1395G>T
ENST00000486063.5:n.1205G>T
NM_000500.7:c.1226G>T	NP_000491.4:p.Arg409Leu
NM_001128590.3:c.1136G>T	NP_001122062.3:p.Arg379Leu
XM_011514314.1:c.821G>T	XP_011512616.1:p.Arg274Leu
NM_000500.9:c.1226G>T MANE Select	NP_000491.4:p.Arg409Leu
NM_001368143.1:c.821G>T	NP_001355072.1:p.Arg274Leu
NM_001368144.1:c.821G>T	NP_001355073.1:p.Arg274Leu
NM_001128590.4:c.1136G>T	NP_001122062.3:p.Arg379Leu
NM_001368143.2:c.821G>T	NP_001355072.1:p.Arg274Leu
NM_001368144.2:c.821G>T	NP_001355073.1:p.Arg274Leu