Canonical Allele Identifier: CA1087498319

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1776032513
• gnomAD v3: 6-32038928-G-A
• gnomAD v4: 6-32038928-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038928G>A , CM000668.2:g.32038928G>A	GRCh38
NC_000006.11:g.32006705G>A , CM000668.1:g.32006705G>A	GRCh37
NC_000006.10:g.32114684G>A	NCBI36
NG_007941.2:g.5621G>A
NG_007941.3:g.5624G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.292+117G>A MANE Select	ENSP00000496625.1:n.292+117G>A
ENST00000418967.6:c.292+117G>A	ENSP00000408860.2:n.292+117G>A
ENST00000435122.3:c.203-166G>A	ENSP00000415043.2:n.203-166G>A
ENST00000464325.5:n.229+117G>A
ENST00000466779.5:c.292+117G>A	ENSP00000417321.1:n.292+117G>A
ENST00000466879.5:n.178G>A
ENST00000469053.5:c.203-147G>A	ENSP00000418104.1:n.203-147G>A
ENST00000471671.4:c.292+117G>A	ENSP00000418561.1:n.292+117G>A
ENST00000478281.5:c.292+117G>A	ENSP00000419572.1:n.292+117G>A
ENST00000479074.5:n.350+117G>A
ENST00000479730.5:n.447+117G>A
ENST00000480027.1:n.462G>A
ENST00000483041.5:n.442+117G>A
ENST00000486063.5:n.472+117G>A
ENST00000488465.1:n.300+117G>A
NM_000500.7:c.292+117G>A	NP_000491.4:n.292+117G>A
NM_001128590.3:c.203-166G>A	NP_001122062.3:n.203-166G>A
XM_011514314.1:c.-133+117G>A	XP_011512616.1:n.-133+117G>A
NM_000500.9:c.292+117G>A MANE Select	NP_000491.4:n.292+117G>A
NM_001368143.1:c.-133+117G>A	NP_001355072.1:n.-133+117G>A
NM_001368144.1:c.-132-147G>A	NP_001355073.1:n.-132-147G>A
NM_001128590.4:c.203-166G>A	NP_001122062.3:n.203-166G>A
NM_001368143.2:c.-133+117G>A	NP_001355072.1:n.-133+117G>A
NM_001368144.2:c.-132-147G>A	NP_001355073.1:n.-132-147G>A