Canonical Allele Identifier: CA3732379

Gene: CYP21A2

Linked Data

• dbSNP Id: rs776029298
• ExAC: 6:32006978 G / T
• gnomAD v2: 6-32006978-G-T
• gnomAD v4: 6-32039201-G-T
• MyVariant Identifiers: chr6:g.32006978G>T (hg19) ; chr6:g.32039201G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039201G>T , CM000668.2:g.32039201G>T	GRCh38
NC_000006.11:g.32006978G>T , CM000668.1:g.32006978G>T	GRCh37
NC_000006.10:g.32114957G>T	NCBI36
NG_007941.2:g.5894G>T
NG_008337.2:g.75174C>A
NG_007941.3:g.5897G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.400G>T MANE Select	ENSP00000496625.1:p.Asp134Tyr
ENST00000418967.6:c.400G>T	ENSP00000408860.2:p.Asp134Tyr
ENST00000435122.3:c.310G>T	ENSP00000415043.2:p.Asp104Tyr
ENST00000464325.5:n.321G>T
ENST00000466779.5:c.*92G>T	ENSP00000417321.1:n.*92G>T
ENST00000466879.5:n.451G>T
ENST00000469053.5:c.*92G>T	ENSP00000418104.1:n.*92G>T
ENST00000471671.4:c.400G>T	ENSP00000418561.1:p.Asp134Tyr
ENST00000478281.5:c.433G>T	ENSP00000419572.1:p.Asp145Tyr
ENST00000479074.5:n.458G>T
ENST00000479730.5:n.555G>T
ENST00000483041.5:n.569G>T
ENST00000486063.5:n.580G>T
ENST00000488465.1:n.408G>T
NM_000500.7:c.400G>T	NP_000491.4:p.Asp134Tyr
NM_001128590.3:c.310G>T	NP_001122062.3:p.Asp104Tyr
XM_011514314.1:c.-6G>T	XP_011512616.1:n.-6G>T
NM_000500.9:c.400G>T MANE Select	NP_000491.4:p.Asp134Tyr
NM_001368143.1:c.-6G>T	NP_001355072.1:n.-6G>T
NM_001368144.1:c.-6G>T	NP_001355073.1:n.-6G>T
NM_001128590.4:c.310G>T	NP_001122062.3:p.Asp104Tyr
NM_001368143.2:c.-6G>T	NP_001355072.1:n.-6G>T
NM_001368144.2:c.-6G>T	NP_001355073.1:n.-6G>T