Canonical Allele Identifier: CA3732626

Gene: CYP21A2

Linked Data

• dbSNP Id: rs766860260
• ExAC: 6:32008308 C / T
• gnomAD v2: 6-32008308-C-T
• gnomAD v3: 6-32040531-C-T
• gnomAD v4: 6-32040531-C-T
• MyVariant Identifiers: chr6:g.32008308C>T (hg19) ; chr6:g.32040531C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040531C>T , CM000668.2:g.32040531C>T	GRCh38
NC_000006.11:g.32008308C>T , CM000668.1:g.32008308C>T	GRCh37
NC_000006.10:g.32116287C>T	NCBI36
NG_007941.2:g.7224C>T
NG_008337.2:g.73844G>A
NG_007941.3:g.7227C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1065C>T MANE Select	ENSP00000496625.1:p.Arg355=
ENST00000418967.6:c.1065C>T	ENSP00000408860.2:p.Arg355=
ENST00000435122.3:c.975C>T	ENSP00000415043.2:p.Arg325=
ENST00000479074.5:n.1123C>T
ENST00000479730.5:n.1181C>T
ENST00000483041.5:n.1234C>T
ENST00000486063.5:n.1044C>T
NM_000500.7:c.1065C>T	NP_000491.4:p.Arg355=
NM_001128590.3:c.975C>T	NP_001122062.3:p.Arg325=
XM_011514314.1:c.660C>T	XP_011512616.1:p.Arg220=
NM_000500.9:c.1065C>T MANE Select	NP_000491.4:p.Arg355=
NM_001368143.1:c.660C>T	NP_001355072.1:p.Arg220=
NM_001368144.1:c.660C>T	NP_001355073.1:p.Arg220=
NM_001128590.4:c.975C>T	NP_001122062.3:p.Arg325=
NM_001368143.2:c.660C>T	NP_001355072.1:p.Arg220=
NM_001368144.2:c.660C>T	NP_001355073.1:p.Arg220=