Canonical Allele Identifier: CA363500073

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32038794-G-T
• MyVariant Identifiers: chr6:g.32006571G>T (hg19) ; chr6:g.32038794G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038794G>T , CM000668.2:g.32038794G>T	GRCh38
NC_000006.11:g.32006571G>T , CM000668.1:g.32006571G>T	GRCh37
NC_000006.10:g.32114550G>T	NCBI36
NG_007941.2:g.5487G>T
NG_007941.3:g.5490G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.275G>T MANE Select	ENSP00000496625.1:p.Arg92Ile
ENST00000418967.6:c.275G>T	ENSP00000408860.2:p.Arg92Ile
ENST00000435122.3:c.202+170G>T	ENSP00000415043.2:n.202+170G>T
ENST00000464325.5:n.212G>T
ENST00000466779.5:c.275G>T	ENSP00000417321.1:p.Arg92Ile
ENST00000466879.5:n.44G>T
ENST00000469053.5:c.202+170G>T	ENSP00000418104.1:n.202+170G>T
ENST00000471671.4:c.275G>T	ENSP00000418561.1:p.Arg92Ile
ENST00000478281.5:c.275G>T	ENSP00000419572.1:p.Arg92Ile
ENST00000479074.5:n.333G>T
ENST00000479730.5:n.430G>T
ENST00000480027.1:n.328G>T
ENST00000483041.5:n.425G>T
ENST00000486063.5:n.455G>T
ENST00000488465.1:n.283G>T
NM_000500.7:c.275G>T	NP_000491.4:p.Arg92Ile
NM_001128590.3:c.202+170G>T	NP_001122062.3:n.202+170G>T
XM_011514314.1:c.-150G>T	XP_011512616.1:n.-150G>T
NM_000500.9:c.275G>T MANE Select	NP_000491.4:p.Arg92Ile
NM_001368143.1:c.-150G>T	NP_001355072.1:n.-150G>T
NM_001368144.1:c.-133+170G>T	NP_001355073.1:n.-133+170G>T
NM_001128590.4:c.202+170G>T	NP_001122062.3:n.202+170G>T
NM_001368143.2:c.-150G>T	NP_001355072.1:n.-150G>T
NM_001368144.2:c.-133+170G>T	NP_001355073.1:n.-133+170G>T