Canonical Allele Identifier: CA363501430

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32006964T>C (hg19) ; chr6:g.32039187T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039187T>C , CM000668.2:g.32039187T>C	GRCh38
NC_000006.11:g.32006964T>C , CM000668.1:g.32006964T>C	GRCh37
NC_000006.10:g.32114943T>C	NCBI36
NG_007941.2:g.5880T>C
NG_008337.2:g.75188A>G
NG_007941.3:g.5883T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.386T>C MANE Select	ENSP00000496625.1:p.Leu129Pro
ENST00000418967.6:c.386T>C	ENSP00000408860.2:p.Leu129Pro
ENST00000435122.3:c.296T>C	ENSP00000415043.2:p.Leu99Pro
ENST00000464325.5:n.307T>C
ENST00000466779.5:c.*78T>C	ENSP00000417321.1:n.*78T>C
ENST00000466879.5:n.437T>C
ENST00000469053.5:c.*78T>C	ENSP00000418104.1:n.*78T>C
ENST00000471671.4:c.386T>C	ENSP00000418561.1:p.Leu129Pro
ENST00000478281.5:c.419T>C	ENSP00000419572.1:p.Leu140Pro
ENST00000479074.5:n.444T>C
ENST00000479730.5:n.541T>C
ENST00000483041.5:n.555T>C
ENST00000486063.5:n.566T>C
ENST00000488465.1:n.394T>C
NM_000500.7:c.386T>C	NP_000491.4:p.Leu129Pro
NM_001128590.3:c.296T>C	NP_001122062.3:p.Leu99Pro
XM_011514314.1:c.-20T>C	XP_011512616.1:n.-20T>C
NM_000500.9:c.386T>C MANE Select	NP_000491.4:p.Leu129Pro
NM_001368143.1:c.-20T>C	NP_001355072.1:n.-20T>C
NM_001368144.1:c.-20T>C	NP_001355073.1:n.-20T>C
NM_001128590.4:c.296T>C	NP_001122062.3:p.Leu99Pro
NM_001368143.2:c.-20T>C	NP_001355072.1:n.-20T>C
NM_001368144.2:c.-20T>C	NP_001355073.1:n.-20T>C