Canonical Allele Identifier: CA363512009

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040940-G-C
• MyVariant Identifiers: chr6:g.32008717G>C (hg19) ; chr6:g.32040940G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040940G>C , CM000668.2:g.32040940G>C	GRCh38
NC_000006.11:g.32008717G>C , CM000668.1:g.32008717G>C	GRCh37
NC_000006.10:g.32116696G>C	NCBI36
NG_007941.2:g.7633G>C
NG_008337.2:g.73435C>G
NG_007941.3:g.7636G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1294G>C MANE Select	ENSP00000496625.1:p.Glu432Gln
ENST00000418967.6:c.1294G>C	ENSP00000408860.2:p.Glu432Gln
ENST00000435122.3:c.1204G>C	ENSP00000415043.2:p.Glu402Gln
ENST00000479074.5:n.1435G>C
ENST00000479730.5:n.1410G>C
ENST00000483041.5:n.1463G>C
ENST00000486063.5:n.1273G>C
NM_000500.7:c.1294G>C	NP_000491.4:p.Glu432Gln
NM_001128590.3:c.1204G>C	NP_001122062.3:p.Glu402Gln
XM_011514314.1:c.889G>C	XP_011512616.1:p.Glu297Gln
NM_000500.9:c.1294G>C MANE Select	NP_000491.4:p.Glu432Gln
NM_001368143.1:c.889G>C	NP_001355072.1:p.Glu297Gln
NM_001368144.1:c.889G>C	NP_001355073.1:p.Glu297Gln
NM_001128590.4:c.1204G>C	NP_001122062.3:p.Glu402Gln
NM_001368143.2:c.889G>C	NP_001355072.1:p.Glu297Gln
NM_001368144.2:c.889G>C	NP_001355073.1:p.Glu297Gln