Canonical Allele Identifier: CA363503786

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1396254543
• gnomAD v2: 6-32007369-T-C
• gnomAD v4: 6-32039592-T-C
• MyVariant Identifiers: chr6:g.32007369T>C (hg19) ; chr6:g.32039592T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039592T>C , CM000668.2:g.32039592T>C	GRCh38
NC_000006.11:g.32007369T>C , CM000668.1:g.32007369T>C	GRCh37
NC_000006.10:g.32115348T>C	NCBI36
NG_007941.2:g.6285T>C
NG_008337.2:g.74783A>G
NG_007941.3:g.6288T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.596T>C MANE Select	ENSP00000496625.1:p.Leu199Ser
ENST00000418967.6:c.596T>C	ENSP00000408860.2:p.Leu199Ser
ENST00000435122.3:c.506T>C	ENSP00000415043.2:p.Leu169Ser
ENST00000462278.1:n.184T>C
ENST00000464325.5:n.517T>C
ENST00000466779.5:c.*288T>C	ENSP00000417321.1:n.*288T>C
ENST00000466879.5:n.647T>C
ENST00000469053.5:c.*288T>C	ENSP00000418104.1:n.*288T>C
ENST00000471671.4:c.557T>C	ENSP00000418561.1:p.Leu186Ser
ENST00000479074.5:n.654T>C
ENST00000479730.5:n.712T>C
ENST00000483041.5:n.765T>C
ENST00000486063.5:n.776T>C
NM_000500.7:c.596T>C	NP_000491.4:p.Leu199Ser
NM_001128590.3:c.506T>C	NP_001122062.3:p.Leu169Ser
XM_011514314.1:c.191T>C	XP_011512616.1:p.Leu64Ser
NM_000500.9:c.596T>C MANE Select	NP_000491.4:p.Leu199Ser
NM_001368143.1:c.191T>C	NP_001355072.1:p.Leu64Ser
NM_001368144.1:c.191T>C	NP_001355073.1:p.Leu64Ser
NM_001128590.4:c.506T>C	NP_001122062.3:p.Leu169Ser
NM_001368143.2:c.191T>C	NP_001355072.1:p.Leu64Ser
NM_001368144.2:c.191T>C	NP_001355073.1:p.Leu64Ser