Canonical Allele Identifier: CA363501767

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039219-G-C
• MyVariant Identifiers: chr6:g.32006996G>C (hg19) ; chr6:g.32039219G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039219G>C , CM000668.2:g.32039219G>C	GRCh38
NC_000006.11:g.32006996G>C , CM000668.1:g.32006996G>C	GRCh37
NC_000006.10:g.32114975G>C	NCBI36
NG_007941.2:g.5912G>C
NG_008337.2:g.75156C>G
NG_007941.3:g.5915G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.418G>C MANE Select	ENSP00000496625.1:p.Val140Leu
ENST00000418967.6:c.418G>C	ENSP00000408860.2:p.Val140Leu
ENST00000435122.3:c.328G>C	ENSP00000415043.2:p.Val110Leu
ENST00000462278.1:n.6G>C
ENST00000464325.5:n.339G>C
ENST00000466779.5:c.*110G>C	ENSP00000417321.1:n.*110G>C
ENST00000466879.5:n.469G>C
ENST00000469053.5:c.*110G>C	ENSP00000418104.1:n.*110G>C
ENST00000471671.4:c.418G>C	ENSP00000418561.1:p.Val140Leu
ENST00000478281.5:c.451G>C	ENSP00000419572.1:p.Val151Leu
ENST00000479074.5:n.476G>C
ENST00000479730.5:n.573G>C
ENST00000483041.5:n.587G>C
ENST00000486063.5:n.598G>C
ENST00000488465.1:n.426G>C
NM_000500.7:c.418G>C	NP_000491.4:p.Val140Leu
NM_001128590.3:c.328G>C	NP_001122062.3:p.Val110Leu
XM_011514314.1:c.13G>C	XP_011512616.1:p.Val5Leu
NM_000500.9:c.418G>C MANE Select	NP_000491.4:p.Val140Leu
NM_001368143.1:c.13G>C	NP_001355072.1:p.Val5Leu
NM_001368144.1:c.13G>C	NP_001355073.1:p.Val5Leu
NM_001128590.4:c.328G>C	NP_001122062.3:p.Val110Leu
NM_001368143.2:c.13G>C	NP_001355072.1:p.Val5Leu
NM_001368144.2:c.13G>C	NP_001355073.1:p.Val5Leu