Canonical Allele Identifier: CA449818598

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039766-T-C
• MyVariant Identifiers: chr6:g.32007543T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039766T>C , CM000668.2:g.32039766T>C	GRCh38
NC_000006.11:g.32007543T>C , CM000668.1:g.32007543T>C	GRCh37
NC_000006.10:g.32115522T>C	NCBI36
NG_007941.2:g.6459T>C
NG_008337.2:g.74609A>G
NG_007941.3:g.6462T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.669T>C MANE Select	ENSP00000496625.1:p.Gly223=
ENST00000418967.6:c.669T>C	ENSP00000408860.2:p.Gly223=
ENST00000435122.3:c.579T>C	ENSP00000415043.2:p.Gly193=
ENST00000462278.1:n.358T>C
ENST00000466779.5:c.*361T>C	ENSP00000417321.1:n.*361T>C
ENST00000466879.5:n.720T>C
ENST00000479074.5:n.727T>C
ENST00000479730.5:n.785T>C
ENST00000483041.5:n.838T>C
ENST00000486063.5:n.849T>C
NM_000500.7:c.669T>C	NP_000491.4:p.Gly223=
NM_001128590.3:c.579T>C	NP_001122062.3:p.Gly193=
XM_011514314.1:c.264T>C	XP_011512616.1:p.Gly88=
NM_000500.9:c.669T>C MANE Select	NP_000491.4:p.Gly223=
NM_001368143.1:c.264T>C	NP_001355072.1:p.Gly88=
NM_001368144.1:c.264T>C	NP_001355073.1:p.Gly88=
NM_001128590.4:c.579T>C	NP_001122062.3:p.Gly193=
NM_001368143.2:c.264T>C	NP_001355072.1:p.Gly88=
NM_001368144.2:c.264T>C	NP_001355073.1:p.Gly88=