Canonical Allele Identifier: CA449818782

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040495-G-A
• MyVariant Identifiers: chr6:g.32008272G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040495G>A , CM000668.2:g.32040495G>A	GRCh38
NC_000006.11:g.32008272G>A , CM000668.1:g.32008272G>A	GRCh37
NC_000006.10:g.32116251G>A	NCBI36
NG_007941.2:g.7188G>A
NG_008337.2:g.73880C>T
NG_007941.3:g.7191G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1029G>A MANE Select	ENSP00000496625.1:p.Leu343=
ENST00000418967.6:c.1029G>A	ENSP00000408860.2:p.Leu343=
ENST00000435122.3:c.939G>A	ENSP00000415043.2:p.Leu313=
ENST00000479074.5:n.1087G>A
ENST00000479730.5:n.1145G>A
ENST00000483041.5:n.1198G>A
ENST00000486063.5:n.1008G>A
NM_000500.7:c.1029G>A	NP_000491.4:p.Leu343=
NM_001128590.3:c.939G>A	NP_001122062.3:p.Leu313=
XM_011514314.1:c.624G>A	XP_011512616.1:p.Leu208=
NM_000500.9:c.1029G>A MANE Select	NP_000491.4:p.Leu343=
NM_001368143.1:c.624G>A	NP_001355072.1:p.Leu208=
NM_001368144.1:c.624G>A	NP_001355073.1:p.Leu208=
NM_001128590.4:c.939G>A	NP_001122062.3:p.Leu313=
NM_001368143.2:c.624G>A	NP_001355072.1:p.Leu208=
NM_001368144.2:c.624G>A	NP_001355073.1:p.Leu208=