Canonical Allele Identifier: CA363507664

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007980G>T (hg19) ; chr6:g.32040203G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040203G>T , CM000668.2:g.32040203G>T	GRCh38
NC_000006.11:g.32007980G>T , CM000668.1:g.32007980G>T	GRCh37
NC_000006.10:g.32115959G>T	NCBI36
NG_007941.2:g.6896G>T
NG_008337.2:g.74172C>A
NG_007941.3:g.6899G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.937G>T MANE Select	ENSP00000496625.1:p.Glu313Ter
ENST00000418967.6:c.937G>T	ENSP00000408860.2:p.Glu313Ter
ENST00000435122.3:c.847G>T	ENSP00000415043.2:p.Glu283Ter
ENST00000479074.5:n.995G>T
ENST00000479730.5:n.1053G>T
ENST00000483041.5:n.1106G>T
ENST00000486063.5:n.919-203G>T
NM_000500.7:c.937G>T	NP_000491.4:p.Glu313Ter
NM_001128590.3:c.847G>T	NP_001122062.3:p.Glu283Ter
XM_011514314.1:c.532G>T	XP_011512616.1:p.Glu178Ter
NM_000500.9:c.937G>T MANE Select	NP_000491.4:p.Glu313Ter
NM_001368143.1:c.532G>T	NP_001355072.1:p.Glu178Ter
NM_001368144.1:c.532G>T	NP_001355073.1:p.Glu178Ter
NM_001128590.4:c.847G>T	NP_001122062.3:p.Glu283Ter
NM_001368143.2:c.532G>T	NP_001355072.1:p.Glu178Ter
NM_001368144.2:c.532G>T	NP_001355073.1:p.Glu178Ter