Canonical Allele Identifier: CA3732736

Gene: CYP21A2

Linked Data

• dbSNP Id: rs767421046
• ExAC: 6:32008879 A / T
• gnomAD v2: 6-32008879-A-T
• gnomAD v3: 6-32041102-A-T
• gnomAD v4: 6-32041102-A-T
• MyVariant Identifiers: chr6:g.32008879A>T (hg19) ; chr6:g.32041102A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041102A>T , CM000668.2:g.32041102A>T	GRCh38
NC_000006.11:g.32008879A>T , CM000668.1:g.32008879A>T	GRCh37
NC_000006.10:g.32116858A>T	NCBI36
NG_007941.2:g.7795A>T
NG_008337.2:g.73273T>A
NG_007941.3:g.7798A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1456A>T MANE Select	ENSP00000496625.1:p.Met486Leu
ENST00000418967.6:c.1456A>T	ENSP00000408860.2:p.Met486Leu
ENST00000435122.3:c.1366A>T	ENSP00000415043.2:p.Met456Leu
ENST00000479074.5:n.1597A>T
ENST00000479730.5:n.1572A>T
ENST00000483041.5:n.1625A>T
ENST00000486063.5:n.1435A>T
NM_000500.7:c.1456A>T	NP_000491.4:p.Met486Leu
NM_001128590.3:c.1366A>T	NP_001122062.3:p.Met456Leu
XM_011514314.1:c.1051A>T	XP_011512616.1:p.Met351Leu
NM_000500.9:c.1456A>T MANE Select	NP_000491.4:p.Met486Leu
NM_001368143.1:c.1051A>T	NP_001355072.1:p.Met351Leu
NM_001368144.1:c.1051A>T	NP_001355073.1:p.Met351Leu
NM_001128590.4:c.1366A>T	NP_001122062.3:p.Met456Leu
NM_001368143.2:c.1051A>T	NP_001355072.1:p.Met351Leu
NM_001368144.2:c.1051A>T	NP_001355073.1:p.Met351Leu