Canonical Allele Identifier: CA3732552
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs747482395
gnomAD v2: 6-32007872-C-T
gnomAD v3: 6-32040095-C-T
gnomAD v4: 6-32040095-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040095C>T , CM000668.2:g.32040095C>T GRCh38
NC_000006.11:g.32007872C>T , CM000668.1:g.32007872C>T GRCh37
NC_000006.10:g.32115851C>T NCBI36
NG_007941.2:g.6788C>T
NG_008337.2:g.74280G>A
NG_007941.3:g.6791C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.829C>T MANE Select ENSP00000496625.1:p.Leu277Phe
ENST00000418967.6:c.829C>T ENSP00000408860.2:p.Leu277Phe
ENST00000435122.3:c.739C>T ENSP00000415043.2:p.Leu247Phe
ENST00000479074.5:n.887C>T
ENST00000479730.5:n.945C>T
ENST00000483041.5:n.998C>T
ENST00000486063.5:n.918+260C>T
NM_000500.7:c.829C>T NP_000491.4:p.Leu277Phe
NM_001128590.3:c.739C>T NP_001122062.3:p.Leu247Phe
XM_011514314.1:c.424C>T XP_011512616.1:p.Leu142Phe
NM_000500.9:c.829C>T MANE Select NP_000491.4:p.Leu277Phe
NM_001368143.1:c.424C>T NP_001355072.1:p.Leu142Phe
NM_001368144.1:c.424C>T NP_001355073.1:p.Leu142Phe
NM_001128590.4:c.739C>T NP_001122062.3:p.Leu247Phe
NM_001368143.2:c.424C>T NP_001355072.1:p.Leu142Phe
NM_001368144.2:c.424C>T NP_001355073.1:p.Leu142Phe