Canonical Allele Identifier: CA363500712

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039099-C-A
• MyVariant Identifiers: chr6:g.32006876C>A (hg19) ; chr6:g.32039099C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039099C>A , CM000668.2:g.32039099C>A	GRCh38
NC_000006.11:g.32006876C>A , CM000668.1:g.32006876C>A	GRCh37
NC_000006.10:g.32114855C>A	NCBI36
NG_007941.2:g.5792C>A
NG_007941.3:g.5795C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.298C>A MANE Select	ENSP00000496625.1:p.Leu100Met
ENST00000418967.6:c.298C>A	ENSP00000408860.2:p.Leu100Met
ENST00000435122.3:c.208C>A	ENSP00000415043.2:p.Leu70Met
ENST00000464325.5:n.230-11C>A
ENST00000466779.5:c.317C>A	ENSP00000417321.1:p.Ala106Asp
ENST00000466879.5:n.349C>A
ENST00000469053.5:c.227C>A	ENSP00000418104.1:p.Ala76Asp
ENST00000471671.4:c.298C>A	ENSP00000418561.1:p.Leu100Met
ENST00000478281.5:c.331C>A	ENSP00000419572.1:p.Leu111Met
ENST00000479074.5:n.356C>A
ENST00000479730.5:n.453C>A
ENST00000480027.1:n.633C>A
ENST00000483041.5:n.467C>A
ENST00000486063.5:n.478C>A
ENST00000488465.1:n.306C>A
NM_000500.7:c.298C>A	NP_000491.4:p.Leu100Met
NM_001128590.3:c.208C>A	NP_001122062.3:p.Leu70Met
XM_011514314.1:c.-108C>A	XP_011512616.1:n.-108C>A
NM_000500.9:c.298C>A MANE Select	NP_000491.4:p.Leu100Met
NM_001368143.1:c.-108C>A	NP_001355072.1:n.-108C>A
NM_001368144.1:c.-108C>A	NP_001355073.1:n.-108C>A
NM_001128590.4:c.208C>A	NP_001122062.3:p.Leu70Met
NM_001368143.2:c.-108C>A	NP_001355072.1:n.-108C>A
NM_001368144.2:c.-108C>A	NP_001355073.1:n.-108C>A