Canonical Allele Identifier: CA1619396544
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs757288233
gnomAD v4: 6-32038816-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038816G>T , CM000668.2:g.32038816G>T GRCh38
NC_000006.11:g.32006593G>T , CM000668.1:g.32006593G>T GRCh37
NC_000006.10:g.32114572G>T NCBI36
NG_007941.2:g.5509G>T
NG_007941.3:g.5512G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.292+5G>T MANE Select ENSP00000496625.1:n.292+5G>T
ENST00000418967.6:c.292+5G>T ENSP00000408860.2:n.292+5G>T
ENST00000435122.3:c.202+192G>T ENSP00000415043.2:n.202+192G>T
ENST00000464325.5:n.229+5G>T
ENST00000466779.5:c.292+5G>T ENSP00000417321.1:n.292+5G>T
ENST00000466879.5:n.66G>T
ENST00000469053.5:c.202+192G>T ENSP00000418104.1:n.202+192G>T
ENST00000471671.4:c.292+5G>T ENSP00000418561.1:n.292+5G>T
ENST00000478281.5:c.292+5G>T ENSP00000419572.1:n.292+5G>T
ENST00000479074.5:n.350+5G>T
ENST00000479730.5:n.447+5G>T
ENST00000480027.1:n.350G>T
ENST00000483041.5:n.442+5G>T
ENST00000486063.5:n.472+5G>T
ENST00000488465.1:n.300+5G>T
NM_000500.7:c.292+5G>T NP_000491.4:n.292+5G>T
NM_001128590.3:c.202+192G>T NP_001122062.3:n.202+192G>T
XM_011514314.1:c.-133+5G>T XP_011512616.1:n.-133+5G>T
NM_000500.9:c.292+5G>T MANE Select NP_000491.4:n.292+5G>T
NM_001368143.1:c.-133+5G>T NP_001355072.1:n.-133+5G>T
NM_001368144.1:c.-133+192G>T NP_001355073.1:n.-133+192G>T
NM_001128590.4:c.202+192G>T NP_001122062.3:n.202+192G>T
NM_001368143.2:c.-133+5G>T NP_001355072.1:n.-133+5G>T
NM_001368144.2:c.-133+192G>T NP_001355073.1:n.-133+192G>T