Canonical Allele Identifier: CA363512132

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32008738C>G (hg19) ; chr6:g.32040961C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040961C>G , CM000668.2:g.32040961C>G	GRCh38
NC_000006.11:g.32008738C>G , CM000668.1:g.32008738C>G	GRCh37
NC_000006.10:g.32116717C>G	NCBI36
NG_007941.2:g.7654C>G
NG_008337.2:g.73414G>C
NG_007941.3:g.7657C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1315C>G MANE Select	ENSP00000496625.1:p.Leu439Val
ENST00000418967.6:c.1315C>G	ENSP00000408860.2:p.Leu439Val
ENST00000435122.3:c.1225C>G	ENSP00000415043.2:p.Leu409Val
ENST00000479074.5:n.1456C>G
ENST00000479730.5:n.1431C>G
ENST00000483041.5:n.1484C>G
ENST00000486063.5:n.1294C>G
NM_000500.7:c.1315C>G	NP_000491.4:p.Leu439Val
NM_001128590.3:c.1225C>G	NP_001122062.3:p.Leu409Val
XM_011514314.1:c.910C>G	XP_011512616.1:p.Leu304Val
NM_000500.9:c.1315C>G MANE Select	NP_000491.4:p.Leu439Val
NM_001368143.1:c.910C>G	NP_001355072.1:p.Leu304Val
NM_001368144.1:c.910C>G	NP_001355073.1:p.Leu304Val
NM_001128590.4:c.1225C>G	NP_001122062.3:p.Leu409Val
NM_001368143.2:c.910C>G	NP_001355072.1:p.Leu304Val
NM_001368144.2:c.910C>G	NP_001355073.1:p.Leu304Val