Canonical Allele Identifier: CA1619396670

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1260651940
• gnomAD v3: 6-32038989-G-T
• gnomAD v4: 6-32038989-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038989G>T , CM000668.2:g.32038989G>T	GRCh38
NC_000006.11:g.32006766G>T , CM000668.1:g.32006766G>T	GRCh37
NC_000006.10:g.32114745G>T	NCBI36
NG_007941.2:g.5682G>T
NG_007941.3:g.5685G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.293-105G>T MANE Select	ENSP00000496625.1:n.293-105G>T
ENST00000418967.6:c.293-105G>T	ENSP00000408860.2:n.293-105G>T
ENST00000435122.3:c.203-105G>T	ENSP00000415043.2:n.203-105G>T
ENST00000464325.5:n.230-121G>T
ENST00000466779.5:c.293-86G>T	ENSP00000417321.1:n.293-86G>T
ENST00000466879.5:n.239G>T
ENST00000469053.5:c.203-86G>T	ENSP00000418104.1:n.203-86G>T
ENST00000471671.4:c.293-105G>T	ENSP00000418561.1:n.293-105G>T
ENST00000478281.5:c.293-72G>T	ENSP00000419572.1:n.293-72G>T
ENST00000479074.5:n.351-105G>T
ENST00000479730.5:n.448-105G>T
ENST00000480027.1:n.523G>T
ENST00000483041.5:n.443-86G>T
ENST00000486063.5:n.473-105G>T
ENST00000488465.1:n.301-105G>T
NM_000500.7:c.293-105G>T	NP_000491.4:n.293-105G>T
NM_001128590.3:c.203-105G>T	NP_001122062.3:n.203-105G>T
XM_011514314.1:c.-132-86G>T	XP_011512616.1:n.-132-86G>T
NM_000500.9:c.293-105G>T MANE Select	NP_000491.4:n.293-105G>T
NM_001368143.1:c.-132-86G>T	NP_001355072.1:n.-132-86G>T
NM_001368144.1:c.-132-86G>T	NP_001355073.1:n.-132-86G>T
NM_001128590.4:c.203-105G>T	NP_001122062.3:n.203-105G>T
NM_001368143.2:c.-132-86G>T	NP_001355072.1:n.-132-86G>T
NM_001368144.2:c.-132-86G>T	NP_001355073.1:n.-132-86G>T