Canonical Allele Identifier: CA449818773

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040486-T-C
• MyVariant Identifiers: chr6:g.32008263T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040486T>C , CM000668.2:g.32040486T>C	GRCh38
NC_000006.11:g.32008263T>C , CM000668.1:g.32008263T>C	GRCh37
NC_000006.10:g.32116242T>C	NCBI36
NG_007941.2:g.7179T>C
NG_008337.2:g.73889A>G
NG_007941.3:g.7182T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1020T>C MANE Select	ENSP00000496625.1:p.Arg340=
ENST00000418967.6:c.1020T>C	ENSP00000408860.2:p.Arg340=
ENST00000435122.3:c.930T>C	ENSP00000415043.2:p.Arg310=
ENST00000479074.5:n.1078T>C
ENST00000479730.5:n.1136T>C
ENST00000483041.5:n.1189T>C
ENST00000486063.5:n.999T>C
NM_000500.7:c.1020T>C	NP_000491.4:p.Arg340=
NM_001128590.3:c.930T>C	NP_001122062.3:p.Arg310=
XM_011514314.1:c.615T>C	XP_011512616.1:p.Arg205=
NM_000500.9:c.1020T>C MANE Select	NP_000491.4:p.Arg340=
NM_001368143.1:c.615T>C	NP_001355072.1:p.Arg205=
NM_001368144.1:c.615T>C	NP_001355073.1:p.Arg205=
NM_001128590.4:c.930T>C	NP_001122062.3:p.Arg310=
NM_001368143.2:c.615T>C	NP_001355072.1:p.Arg205=
NM_001368144.2:c.615T>C	NP_001355073.1:p.Arg205=