Canonical Allele Identifier: CA2403796939
Community Standard Title: NM_002473.6(MYH9):c.5137A= (p.Ser1713=)
Gene: MYH9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36285878T= , CM000684.2:g.36285878T= GRCh38
NC_000022.10:g.36681924T= , CM000684.1:g.36681924T= GRCh37
NC_000022.9:g.35011870T= NCBI36
NG_011884.2:g.107141A= , LRG_567:g.107141A=

Transcript Alleles

HGVS Amino-acid Change
NM_002473.6:c.5137A= MANE Select NP_002464.1:p.Ser1713=
ENST00000216181.11:c.5137A= MANE Select ENSP00000216181.6:p.Ser1713=
NM_002473.5:c.5137A= , LRG_567t1:c.5137A= NP_002464.1:p.Ser1713=
ENST00000216181.9:c.5137A= ENSP00000216181.5:p.Ser1713=
ENST00000475726.5:n.167A=
ENST00000486218.1:n.144A=
ENST00000685708.1:n.1570A=
ENST00000685801.1:c.5200A= ENSP00000510688.1:p.Ser1734=
ENST00000690244.1:n.473A=
ENST00000691109.1:n.5432A=
XM_011530197.1:c.5137A= XP_011528499.1:p.Ser1713=
XM_011530197.2:c.5137A= XP_011528499.1:p.Ser1713=
XM_017028803.1:c.5137A= XP_016884292.1:p.Ser1713=
XM_017028804.1:c.5137A= XP_016884293.1:p.Ser1713=
XM_017028805.1:c.5137A= XP_016884294.1:p.Ser1713=
XM_017028806.1:c.5137A= XP_016884295.1:p.Ser1713=