Canonical Allele Identifier: CA363511295

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32008483T>C (hg19) ; chr6:g.32040706T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040706T>C , CM000668.2:g.32040706T>C	GRCh38
NC_000006.11:g.32008483T>C , CM000668.1:g.32008483T>C	GRCh37
NC_000006.10:g.32116462T>C	NCBI36
NG_007941.2:g.7399T>C
NG_008337.2:g.73669A>G
NG_007941.3:g.7402T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1157T>C MANE Select	ENSP00000496625.1:p.Ile386Thr
ENST00000418967.6:c.1157T>C	ENSP00000408860.2:p.Ile386Thr
ENST00000435122.3:c.1067T>C	ENSP00000415043.2:p.Ile356Thr
ENST00000479074.5:n.1298T>C
ENST00000479730.5:n.1273T>C
ENST00000483041.5:n.1326T>C
ENST00000486063.5:n.1136T>C
NM_000500.7:c.1157T>C	NP_000491.4:p.Ile386Thr
NM_001128590.3:c.1067T>C	NP_001122062.3:p.Ile356Thr
XM_011514314.1:c.752T>C	XP_011512616.1:p.Ile251Thr
NM_000500.9:c.1157T>C MANE Select	NP_000491.4:p.Ile386Thr
NM_001368143.1:c.752T>C	NP_001355072.1:p.Ile251Thr
NM_001368144.1:c.752T>C	NP_001355073.1:p.Ile251Thr
NM_001128590.4:c.1067T>C	NP_001122062.3:p.Ile356Thr
NM_001368143.2:c.752T>C	NP_001355072.1:p.Ile251Thr
NM_001368144.2:c.752T>C	NP_001355073.1:p.Ile251Thr