Canonical Allele Identifier: CA363510589

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040433-G-A
• COSMIC: COSM4675888
• MyVariant Identifiers: chr6:g.32008210G>A (hg19) ; chr6:g.32040433G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040433G>A , CM000668.2:g.32040433G>A	GRCh38
NC_000006.11:g.32008210G>A , CM000668.1:g.32008210G>A	GRCh37
NC_000006.10:g.32116189G>A	NCBI36
NG_007941.2:g.7126G>A
NG_008337.2:g.73942C>T
NG_007941.3:g.7129G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.967G>A MANE Select	ENSP00000496625.1:p.Asp323Asn
ENST00000418967.6:c.967G>A	ENSP00000408860.2:p.Asp323Asn
ENST00000435122.3:c.877G>A	ENSP00000415043.2:p.Asp293Asn
ENST00000479074.5:n.1025G>A
ENST00000479730.5:n.1083G>A
ENST00000483041.5:n.1136G>A
ENST00000486063.5:n.946G>A
NM_000500.7:c.967G>A	NP_000491.4:p.Asp323Asn
NM_001128590.3:c.877G>A	NP_001122062.3:p.Asp293Asn
XM_011514314.1:c.562G>A	XP_011512616.1:p.Asp188Asn
NM_000500.9:c.967G>A MANE Select	NP_000491.4:p.Asp323Asn
NM_001368143.1:c.562G>A	NP_001355072.1:p.Asp188Asn
NM_001368144.1:c.562G>A	NP_001355073.1:p.Asp188Asn
NM_001128590.4:c.877G>A	NP_001122062.3:p.Asp293Asn
NM_001368143.2:c.562G>A	NP_001355072.1:p.Asp188Asn
NM_001368144.2:c.562G>A	NP_001355073.1:p.Asp188Asn