Canonical Allele Identifier: CA3732350
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs6453
gnomAD v2: 6-32006827-G-T
gnomAD v3: 6-32039050-G-T
gnomAD v4: 6-32039050-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039050G>T , CM000668.2:g.32039050G>T GRCh38
NC_000006.11:g.32006827G>T , CM000668.1:g.32006827G>T GRCh37
NC_000006.10:g.32114806G>T NCBI36
NG_007941.2:g.5743G>T
NG_007941.3:g.5746G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.293-44G>T MANE Select ENSP00000496625.1:n.293-44G>T
ENST00000418967.6:c.293-44G>T ENSP00000408860.2:n.293-44G>T
ENST00000435122.3:c.203-44G>T ENSP00000415043.2:n.203-44G>T
ENST00000464325.5:n.230-60G>T
ENST00000466779.5:c.293-25G>T ENSP00000417321.1:n.293-25G>T
ENST00000466879.5:n.300G>T
ENST00000469053.5:c.203-25G>T ENSP00000418104.1:n.203-25G>T
ENST00000471671.4:c.293-44G>T ENSP00000418561.1:n.293-44G>T
ENST00000478281.5:c.293-11G>T ENSP00000419572.1:n.293-11G>T
ENST00000479074.5:n.351-44G>T
ENST00000479730.5:n.448-44G>T
ENST00000480027.1:n.584G>T
ENST00000483041.5:n.443-25G>T
ENST00000486063.5:n.473-44G>T
ENST00000488465.1:n.301-44G>T
NM_000500.7:c.293-44G>T NP_000491.4:n.293-44G>T
NM_001128590.3:c.203-44G>T NP_001122062.3:n.203-44G>T
XM_011514314.1:c.-132-25G>T XP_011512616.1:n.-132-25G>T
NM_000500.9:c.293-44G>T MANE Select NP_000491.4:n.293-44G>T
NM_001368143.1:c.-132-25G>T NP_001355072.1:n.-132-25G>T
NM_001368144.1:c.-132-25G>T NP_001355073.1:n.-132-25G>T
NM_001128590.4:c.203-44G>T NP_001122062.3:n.203-44G>T
NM_001368143.2:c.-132-25G>T NP_001355072.1:n.-132-25G>T
NM_001368144.2:c.-132-25G>T NP_001355073.1:n.-132-25G>T