Canonical Allele Identifier: CA10209071

Gene: MYH9

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36285226T>C , CM000684.2:g.36285226T>C	GRCh38
NC_000022.10:g.36681272T>C , CM000684.1:g.36681272T>C	GRCh37
NC_000022.9:g.35011218T>C	NCBI36
NG_011884.2:g.107793A>G , LRG_567:g.107793A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002473.6:c.5378A>G MANE Select	NP_002464.1:p.Lys1793Arg
ENST00000216181.11:c.5378A>G MANE Select	ENSP00000216181.6:p.Lys1793Arg
NM_002473.5:c.5378A>G , LRG_567t1:c.5378A>G	NP_002464.1:p.Lys1793Arg
ENST00000216181.9:c.5378A>G	ENSP00000216181.5:p.Lys1793Arg
ENST00000475726.5:n.408A>G
ENST00000486218.1:n.385A>G
ENST00000685708.1:n.1811A>G
ENST00000685801.1:c.5441A>G	ENSP00000510688.1:p.Lys1814Arg
ENST00000690244.1:n.714A>G
ENST00000691109.1:n.5673A>G
XM_011530197.1:c.5378A>G	XP_011528499.1:p.Lys1793Arg
XM_011530197.2:c.5378A>G	XP_011528499.1:p.Lys1793Arg
XM_017028803.1:c.5378A>G	XP_016884292.1:p.Lys1793Arg
XM_017028804.1:c.5378A>G	XP_016884293.1:p.Lys1793Arg
XM_017028805.1:c.5378A>G	XP_016884294.1:p.Lys1793Arg
XM_017028806.1:c.5378A>G	XP_016884295.1:p.Lys1793Arg