Canonical Allele Identifier: CA3732735

Gene: CYP21A2

Linked Data

• dbSNP Id: rs761698955
• ExAC: 6:32008875 G / C
• gnomAD v2: 6-32008875-G-C
• gnomAD v3: 6-32041098-G-C
• gnomAD v4: 6-32041098-G-C
• MyVariant Identifiers: chr6:g.32008875G>C (hg19) ; chr6:g.32041098G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041098G>C , CM000668.2:g.32041098G>C	GRCh38
NC_000006.11:g.32008875G>C , CM000668.1:g.32008875G>C	GRCh37
NC_000006.10:g.32116854G>C	NCBI36
NG_007941.2:g.7791G>C
NG_008337.2:g.73277C>G
NG_007941.3:g.7794G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1452G>C MANE Select	ENSP00000496625.1:p.Arg484=
ENST00000418967.6:c.1452G>C	ENSP00000408860.2:p.Arg484=
ENST00000435122.3:c.1362G>C	ENSP00000415043.2:p.Arg454=
ENST00000479074.5:n.1593G>C
ENST00000479730.5:n.1568G>C
ENST00000483041.5:n.1621G>C
ENST00000486063.5:n.1431G>C
NM_000500.7:c.1452G>C	NP_000491.4:p.Arg484=
NM_001128590.3:c.1362G>C	NP_001122062.3:p.Arg454=
XM_011514314.1:c.1047G>C	XP_011512616.1:p.Arg349=
NM_000500.9:c.1452G>C MANE Select	NP_000491.4:p.Arg484=
NM_001368143.1:c.1047G>C	NP_001355072.1:p.Arg349=
NM_001368144.1:c.1047G>C	NP_001355073.1:p.Arg349=
NM_001128590.4:c.1362G>C	NP_001122062.3:p.Arg454=
NM_001368143.2:c.1047G>C	NP_001355072.1:p.Arg349=
NM_001368144.2:c.1047G>C	NP_001355073.1:p.Arg349=