Canonical Allele Identifier: CA363511926

Gene: CYP21A2

Linked Data

• dbSNP Id: rs72552758
• MyVariant Identifiers: chr6:g.32008696G>C (hg19) ; chr6:g.32040919G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040919G>C , CM000668.2:g.32040919G>C	GRCh38
NC_000006.11:g.32008696G>C , CM000668.1:g.32008696G>C	GRCh37
NC_000006.10:g.32116675G>C	NCBI36
NG_007941.2:g.7612G>C
NG_008337.2:g.73456C>G
NG_007941.3:g.7615G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1273G>C MANE Select	ENSP00000496625.1:p.Gly425Arg
ENST00000418967.6:c.1273G>C	ENSP00000408860.2:p.Gly425Arg
ENST00000435122.3:c.1183G>C	ENSP00000415043.2:p.Gly395Arg
ENST00000479074.5:n.1414G>C
ENST00000479730.5:n.1389G>C
ENST00000483041.5:n.1442G>C
ENST00000486063.5:n.1252G>C
NM_000500.7:c.1273G>C	NP_000491.4:p.Gly425Arg
NM_001128590.3:c.1183G>C	NP_001122062.3:p.Gly395Arg
XM_011514314.1:c.868G>C	XP_011512616.1:p.Gly290Arg
NM_000500.9:c.1273G>C MANE Select	NP_000491.4:p.Gly425Arg
NM_001368143.1:c.868G>C	NP_001355072.1:p.Gly290Arg
NM_001368144.1:c.868G>C	NP_001355073.1:p.Gly290Arg
NM_001128590.4:c.1183G>C	NP_001122062.3:p.Gly395Arg
NM_001368143.2:c.868G>C	NP_001355072.1:p.Gly290Arg
NM_001368144.2:c.868G>C	NP_001355073.1:p.Gly290Arg