Canonical Allele Identifier: CA449729056

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007007G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039230G>T , CM000668.2:g.32039230G>T	GRCh38
NC_000006.11:g.32007007G>T , CM000668.1:g.32007007G>T	GRCh37
NC_000006.10:g.32114986G>T	NCBI36
NG_007941.2:g.5923G>T
NG_008337.2:g.75145C>A
NG_007941.3:g.5926G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.429G>T MANE Select	ENSP00000496625.1:p.Leu143=
ENST00000418967.6:c.429G>T	ENSP00000408860.2:p.Leu143=
ENST00000435122.3:c.339G>T	ENSP00000415043.2:p.Leu113=
ENST00000462278.1:n.17G>T
ENST00000464325.5:n.350G>T
ENST00000466779.5:c.*121G>T	ENSP00000417321.1:n.*121G>T
ENST00000466879.5:n.480G>T
ENST00000469053.5:c.*121G>T	ENSP00000418104.1:n.*121G>T
ENST00000471671.4:c.429G>T	ENSP00000418561.1:p.Leu143=
ENST00000478281.5:c.462G>T	ENSP00000419572.1:p.Leu154=
ENST00000479074.5:n.487G>T
ENST00000479730.5:n.584G>T
ENST00000483041.5:n.598G>T
ENST00000486063.5:n.609G>T
ENST00000488465.1:n.437G>T
NM_000500.7:c.429G>T	NP_000491.4:p.Leu143=
NM_001128590.3:c.339G>T	NP_001122062.3:p.Leu113=
XM_011514314.1:c.24G>T	XP_011512616.1:p.Leu8=
NM_000500.9:c.429G>T MANE Select	NP_000491.4:p.Leu143=
NM_001368143.1:c.24G>T	NP_001355072.1:p.Leu8=
NM_001368144.1:c.24G>T	NP_001355073.1:p.Leu8=
NM_001128590.4:c.339G>T	NP_001122062.3:p.Leu113=
NM_001368143.2:c.24G>T	NP_001355072.1:p.Leu8=
NM_001368144.2:c.24G>T	NP_001355073.1:p.Leu8=