Canonical Allele Identifier: CA363502507

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007136A>T (hg19) ; chr6:g.32039359A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039359A>T , CM000668.2:g.32039359A>T	GRCh38
NC_000006.11:g.32007136A>T , CM000668.1:g.32007136A>T	GRCh37
NC_000006.10:g.32115115A>T	NCBI36
NG_007941.2:g.6052A>T
NG_008337.2:g.75016T>A
NG_007941.3:g.6055A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.451A>T MANE Select	ENSP00000496625.1:p.Met151Leu
ENST00000418967.6:c.451A>T	ENSP00000408860.2:p.Met151Leu
ENST00000435122.3:c.361A>T	ENSP00000415043.2:p.Met121Leu
ENST00000462278.1:n.39A>T
ENST00000464325.5:n.372A>T
ENST00000466779.5:c.*143A>T	ENSP00000417321.1:n.*143A>T
ENST00000466879.5:n.502A>T
ENST00000469053.5:c.*143A>T	ENSP00000418104.1:n.*143A>T
ENST00000471671.4:c.451A>T	ENSP00000418561.1:p.Met151Leu
ENST00000478281.5:c.484A>T	ENSP00000419572.1:p.Met162Leu
ENST00000479074.5:n.509A>T
ENST00000479730.5:n.606A>T
ENST00000483041.5:n.620A>T
ENST00000486063.5:n.631A>T
ENST00000488465.1:n.459A>T
NM_000500.7:c.451A>T	NP_000491.4:p.Met151Leu
NM_001128590.3:c.361A>T	NP_001122062.3:p.Met121Leu
XM_011514314.1:c.46A>T	XP_011512616.1:p.Met16Leu
NM_000500.9:c.451A>T MANE Select	NP_000491.4:p.Met151Leu
NM_001368143.1:c.46A>T	NP_001355072.1:p.Met16Leu
NM_001368144.1:c.46A>T	NP_001355073.1:p.Met16Leu
NM_001128590.4:c.361A>T	NP_001122062.3:p.Met121Leu
NM_001368143.2:c.46A>T	NP_001355072.1:p.Met16Leu
NM_001368144.2:c.46A>T	NP_001355073.1:p.Met16Leu