Canonical Allele Identifier: CA10209048

Gene: MYH9

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36285117G>A , CM000684.2:g.36285117G>A	GRCh38
NC_000022.10:g.36681163G>A , CM000684.1:g.36681163G>A	GRCh37
NC_000022.9:g.35011109G>A	NCBI36
NG_011884.2:g.107902C>T , LRG_567:g.107902C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002473.6:c.5483+4C>T MANE Select	NP_002464.1:n.5483+4C>T
ENST00000216181.11:c.5483+4C>T MANE Select	ENSP00000216181.6:n.5483+4C>T
NM_002473.5:c.5483+4C>T , LRG_567t1:c.5483+4C>T	NP_002464.1:n.5483+4C>T
ENST00000216181.9:c.5483+4C>T	ENSP00000216181.5:n.5483+4C>T
ENST00000475726.5:n.513+4C>T
ENST00000486218.1:n.490+4C>T
ENST00000685708.1:n.1916+4C>T
ENST00000685801.1:c.5546+4C>T	ENSP00000510688.1:n.5546+4C>T
ENST00000690244.1:n.819+4C>T
ENST00000691109.1:n.5778+4C>T
XM_011530197.1:c.5483+4C>T	XP_011528499.1:n.5483+4C>T
XM_011530197.2:c.5483+4C>T	XP_011528499.1:n.5483+4C>T
XM_017028803.1:c.5483+4C>T	XP_016884292.1:n.5483+4C>T
XM_017028804.1:c.5483+4C>T	XP_016884293.1:n.5483+4C>T
XM_017028805.1:c.5483+4C>T	XP_016884294.1:n.5483+4C>T
XM_017028806.1:c.5483+4C>T	XP_016884295.1:n.5483+4C>T