Canonical Allele Identifier: CA363500794

Gene: CYP21A2

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039109G>C , CM000668.2:g.32039109G>C	GRCh38
NC_000006.11:g.32006886G>C , CM000668.1:g.32006886G>C	GRCh37
NC_000006.10:g.32114865G>C	NCBI36
NG_007941.2:g.5802G>C
NG_007941.3:g.5805G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.308G>C MANE Select	ENSP00000496625.1:p.Arg103Thr
ENST00000418967.6:c.308G>C	ENSP00000408860.2:p.Arg103Thr
ENST00000435122.3:c.218G>C	ENSP00000415043.2:p.Arg73Thr
ENST00000464325.5:n.230-1G>C
ENST00000466779.5:c.327G>C	ENSP00000417321.1:p.Ter109Tyr
ENST00000466879.5:n.359G>C
ENST00000469053.5:c.237G>C	ENSP00000418104.1:p.Ter79Tyr
ENST00000471671.4:c.308G>C	ENSP00000418561.1:p.Arg103Thr
ENST00000478281.5:c.341G>C	ENSP00000419572.1:p.Arg114Thr
ENST00000479074.5:n.366G>C
ENST00000479730.5:n.463G>C
ENST00000480027.1:n.643G>C
ENST00000483041.5:n.477G>C
ENST00000486063.5:n.488G>C
ENST00000488465.1:n.316G>C
NM_000500.7:c.308G>C	NP_000491.4:p.Arg103Thr
NM_001128590.3:c.218G>C	NP_001122062.3:p.Arg73Thr
XM_011514314.1:c.-98G>C	XP_011512616.1:n.-98G>C
NM_000500.9:c.308G>C MANE Select	NP_000491.4:p.Arg103Thr
NM_001368143.1:c.-98G>C	NP_001355072.1:n.-98G>C
NM_001368144.1:c.-98G>C	NP_001355073.1:n.-98G>C
NM_001128590.4:c.218G>C	NP_001122062.3:p.Arg73Thr
NM_001368143.2:c.-98G>C	NP_001355072.1:n.-98G>C
NM_001368144.2:c.-98G>C	NP_001355073.1:n.-98G>C