Canonical Allele Identifier: CA363511470

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1367745243
• gnomAD v2: 6-32008538-G-T
• gnomAD v3: 6-32040761-G-T
• gnomAD v4: 6-32040761-G-T
• MyVariant Identifiers: chr6:g.32008538G>T (hg19) ; chr6:g.32040761G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040761G>T , CM000668.2:g.32040761G>T	GRCh38
NC_000006.11:g.32008538G>T , CM000668.1:g.32008538G>T	GRCh37
NC_000006.10:g.32116517G>T	NCBI36
NG_007941.2:g.7454G>T
NG_008337.2:g.73614C>A
NG_007941.3:g.7457G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1212G>T MANE Select	ENSP00000496625.1:p.Glu404Asp
ENST00000418967.6:c.1212G>T	ENSP00000408860.2:p.Glu404Asp
ENST00000435122.3:c.1122G>T	ENSP00000415043.2:p.Glu374Asp
ENST00000479074.5:n.1353G>T
ENST00000479730.5:n.1328G>T
ENST00000483041.5:n.1381G>T
ENST00000486063.5:n.1191G>T
NM_000500.7:c.1212G>T	NP_000491.4:p.Glu404Asp
NM_001128590.3:c.1122G>T	NP_001122062.3:p.Glu374Asp
XM_011514314.1:c.807G>T	XP_011512616.1:p.Glu269Asp
NM_000500.9:c.1212G>T MANE Select	NP_000491.4:p.Glu404Asp
NM_001368143.1:c.807G>T	NP_001355072.1:p.Glu269Asp
NM_001368144.1:c.807G>T	NP_001355073.1:p.Glu269Asp
NM_001128590.4:c.1122G>T	NP_001122062.3:p.Glu374Asp
NM_001368143.2:c.807G>T	NP_001355072.1:p.Glu269Asp
NM_001368144.2:c.807G>T	NP_001355073.1:p.Glu269Asp