Canonical Allele Identifier: CA363507237

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040156-C-T
• MyVariant Identifiers: chr6:g.32007933C>T (hg19) ; chr6:g.32040156C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040156C>T , CM000668.2:g.32040156C>T	GRCh38
NC_000006.11:g.32007933C>T , CM000668.1:g.32007933C>T	GRCh37
NC_000006.10:g.32115912C>T	NCBI36
NG_007941.2:g.6849C>T
NG_008337.2:g.74219G>A
NG_007941.3:g.6852C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.890C>T MANE Select	ENSP00000496625.1:p.Thr297Ile
ENST00000418967.6:c.890C>T	ENSP00000408860.2:p.Thr297Ile
ENST00000435122.3:c.800C>T	ENSP00000415043.2:p.Thr267Ile
ENST00000479074.5:n.948C>T
ENST00000479730.5:n.1006C>T
ENST00000483041.5:n.1059C>T
ENST00000486063.5:n.919-250C>T
NM_000500.7:c.890C>T	NP_000491.4:p.Thr297Ile
NM_001128590.3:c.800C>T	NP_001122062.3:p.Thr267Ile
XM_011514314.1:c.485C>T	XP_011512616.1:p.Thr162Ile
NM_000500.9:c.890C>T MANE Select	NP_000491.4:p.Thr297Ile
NM_001368143.1:c.485C>T	NP_001355072.1:p.Thr162Ile
NM_001368144.1:c.485C>T	NP_001355073.1:p.Thr162Ile
NM_001128590.4:c.800C>T	NP_001122062.3:p.Thr267Ile
NM_001368143.2:c.485C>T	NP_001355072.1:p.Thr162Ile
NM_001368144.2:c.485C>T	NP_001355073.1:p.Thr162Ile