Canonical Allele Identifier: CA1619397230
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1463196531

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039910C>G , CM000668.2:g.32039910C>G GRCh38
NC_000006.11:g.32007687C>G , CM000668.1:g.32007687C>G GRCh37
NC_000006.10:g.32115666C>G NCBI36
NG_007941.2:g.6603C>G
NG_008337.2:g.74465G>C
NG_007941.3:g.6606C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.738+75C>G MANE Select ENSP00000496625.1:n.738+75C>G
ENST00000418967.6:c.738+75C>G ENSP00000408860.2:n.738+75C>G
ENST00000435122.3:c.648+75C>G ENSP00000415043.2:n.648+75C>G
ENST00000462278.1:n.502C>G
ENST00000479074.5:n.796+75C>G
ENST00000479730.5:n.854+75C>G
ENST00000483041.5:n.907+75C>G
ENST00000486063.5:n.918+75C>G
NM_000500.7:c.738+75C>G NP_000491.4:n.738+75C>G
NM_001128590.3:c.648+75C>G NP_001122062.3:n.648+75C>G
XM_011514314.1:c.333+75C>G XP_011512616.1:n.333+75C>G
NM_000500.9:c.738+75C>G MANE Select NP_000491.4:n.738+75C>G
NM_001368143.1:c.333+75C>G NP_001355072.1:n.333+75C>G
NM_001368144.1:c.333+75C>G NP_001355073.1:n.333+75C>G
NM_001128590.4:c.648+75C>G NP_001122062.3:n.648+75C>G
NM_001368143.2:c.333+75C>G NP_001355072.1:n.333+75C>G
NM_001368144.2:c.333+75C>G NP_001355073.1:n.333+75C>G