Canonical Allele Identifier: CA449729893
Gene: CYP21A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32007979T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040202T>C , CM000668.2:g.32040202T>C GRCh38
NC_000006.11:g.32007979T>C , CM000668.1:g.32007979T>C GRCh37
NC_000006.10:g.32115958T>C NCBI36
NG_007941.2:g.6895T>C
NG_008337.2:g.74173A>G
NG_007941.3:g.6898T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.936T>C MANE Select ENSP00000496625.1:p.Pro312=
ENST00000418967.6:c.936T>C ENSP00000408860.2:p.Pro312=
ENST00000435122.3:c.846T>C ENSP00000415043.2:p.Pro282=
ENST00000479074.5:n.994T>C
ENST00000479730.5:n.1052T>C
ENST00000483041.5:n.1105T>C
ENST00000486063.5:n.919-204T>C
NM_000500.7:c.936T>C NP_000491.4:p.Pro312=
NM_001128590.3:c.846T>C NP_001122062.3:p.Pro282=
XM_011514314.1:c.531T>C XP_011512616.1:p.Pro177=
NM_000500.9:c.936T>C MANE Select NP_000491.4:p.Pro312=
NM_001368143.1:c.531T>C NP_001355072.1:p.Pro177=
NM_001368144.1:c.531T>C NP_001355073.1:p.Pro177=
NM_001128590.4:c.846T>C NP_001122062.3:p.Pro282=
NM_001368143.2:c.531T>C NP_001355072.1:p.Pro177=
NM_001368144.2:c.531T>C NP_001355073.1:p.Pro177=