Canonical Allele Identifier: CA3732707
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs769266134
gnomAD v2: 6-32008638-G-T
gnomAD v3: 6-32040861-G-T
gnomAD v4: 6-32040861-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040861G>T , CM000668.2:g.32040861G>T GRCh38
NC_000006.11:g.32008638G>T , CM000668.1:g.32008638G>T GRCh37
NC_000006.10:g.32116617G>T NCBI36
NG_007941.2:g.7554G>T
NG_008337.2:g.73514C>A
NG_007941.3:g.7557G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.1223-8G>T MANE Select ENSP00000496625.1:n.1223-8G>T
ENST00000418967.6:c.1223-8G>T ENSP00000408860.2:n.1223-8G>T
ENST00000435122.3:c.1133-8G>T ENSP00000415043.2:n.1133-8G>T
ENST00000479074.5:n.1364-8G>T
ENST00000479730.5:n.1339-8G>T
ENST00000483041.5:n.1392-8G>T
ENST00000486063.5:n.1202-8G>T
NM_000500.7:c.1223-8G>T NP_000491.4:n.1223-8G>T
NM_001128590.3:c.1133-8G>T NP_001122062.3:n.1133-8G>T
XM_011514314.1:c.818-8G>T XP_011512616.1:n.818-8G>T
NM_000500.9:c.1223-8G>T MANE Select NP_000491.4:n.1223-8G>T
NM_001368143.1:c.818-8G>T NP_001355072.1:n.818-8G>T
NM_001368144.1:c.818-8G>T NP_001355073.1:n.818-8G>T
NM_001128590.4:c.1133-8G>T NP_001122062.3:n.1133-8G>T
NM_001368143.2:c.818-8G>T NP_001355072.1:n.818-8G>T
NM_001368144.2:c.818-8G>T NP_001355073.1:n.818-8G>T