Canonical Allele Identifier: CA136895432

Gene: CYP21A2

Linked Data

• dbSNP Id: rs376415981
• gnomAD v2: 6-32008183-A-C
• gnomAD v4: 6-32040406-A-C
• MyVariant Identifiers: chr6:g.32008183A>C (hg19) ; chr6:g.32040406A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040406A>C , CM000668.2:g.32040406A>C	GRCh38
NC_000006.11:g.32008183A>C , CM000668.1:g.32008183A>C	GRCh37
NC_000006.10:g.32116162A>C	NCBI36
NG_007941.2:g.7099A>C
NG_008337.2:g.73969T>G
NG_007941.3:g.7102A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.940A>C MANE Select	ENSP00000496625.1:p.Ile314Leu
ENST00000418967.6:c.940A>C	ENSP00000408860.2:p.Ile314Leu
ENST00000435122.3:c.850A>C	ENSP00000415043.2:p.Ile284Leu
ENST00000479074.5:n.998A>C
ENST00000479730.5:n.1056A>C
ENST00000483041.5:n.1109A>C
ENST00000486063.5:n.919A>C
NM_000500.7:c.940A>C	NP_000491.4:p.Ile314Leu
NM_001128590.3:c.850A>C	NP_001122062.3:p.Ile284Leu
XM_011514314.1:c.535A>C	XP_011512616.1:p.Ile179Leu
NM_000500.9:c.940A>C MANE Select	NP_000491.4:p.Ile314Leu
NM_001368143.1:c.535A>C	NP_001355072.1:p.Ile179Leu
NM_001368144.1:c.535A>C	NP_001355073.1:p.Ile179Leu
NM_001128590.4:c.850A>C	NP_001122062.3:p.Ile284Leu
NM_001368143.2:c.535A>C	NP_001355072.1:p.Ile179Leu
NM_001368144.2:c.535A>C	NP_001355073.1:p.Ile179Leu