Canonical Allele Identifier: CA363511250

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1429901248
• gnomAD v2: 6-32008462-T-C
• gnomAD v4: 6-32040685-T-C
• MyVariant Identifiers: chr6:g.32008462T>C (hg19) ; chr6:g.32040685T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040685T>C , CM000668.2:g.32040685T>C	GRCh38
NC_000006.11:g.32008462T>C , CM000668.1:g.32008462T>C	GRCh37
NC_000006.10:g.32116441T>C	NCBI36
NG_007941.2:g.7378T>C
NG_008337.2:g.73690A>G
NG_007941.3:g.7381T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1136T>C MANE Select	ENSP00000496625.1:p.Ile379Thr
ENST00000418967.6:c.1136T>C	ENSP00000408860.2:p.Ile379Thr
ENST00000435122.3:c.1046T>C	ENSP00000415043.2:p.Ile349Thr
ENST00000479074.5:n.1277T>C
ENST00000479730.5:n.1252T>C
ENST00000483041.5:n.1305T>C
ENST00000486063.5:n.1115T>C
NM_000500.7:c.1136T>C	NP_000491.4:p.Ile379Thr
NM_001128590.3:c.1046T>C	NP_001122062.3:p.Ile349Thr
XM_011514314.1:c.731T>C	XP_011512616.1:p.Ile244Thr
NM_000500.9:c.1136T>C MANE Select	NP_000491.4:p.Ile379Thr
NM_001368143.1:c.731T>C	NP_001355072.1:p.Ile244Thr
NM_001368144.1:c.731T>C	NP_001355073.1:p.Ile244Thr
NM_001128590.4:c.1046T>C	NP_001122062.3:p.Ile349Thr
NM_001368143.2:c.731T>C	NP_001355072.1:p.Ile244Thr
NM_001368144.2:c.731T>C	NP_001355073.1:p.Ile244Thr