Canonical Allele Identifier: CA411402374
Gene: MYH9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36316632T>A , CM000684.2:g.36316632T>A GRCh38
NC_000022.10:g.36712677T>A , CM000684.1:g.36712677T>A GRCh37
NC_000022.9:g.35042623T>A NCBI36
NG_011884.2:g.76387A>T , LRG_567:g.76387A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000685187.1:n.1479A>T
ENST00000685801.1:c.1265A>T ENSP00000510688.1:p.Tyr422Phe
ENST00000691109.1:n.1560A>T
ENST00000691687.1:n.2063A>T
ENST00000692930.1:n.1479A>T
ENST00000216181.11:c.1265A>T MANE Select ENSP00000216181.6:p.Tyr422Phe
ENST00000216181.9:c.1265A>T ENSP00000216181.5:p.Tyr422Phe
ENST00000477189.1:n.453A>T
NM_002473.5:c.1265A>T , LRG_567t1:c.1265A>T NP_002464.1:p.Tyr422Phe
XM_011530197.1:c.1265A>T XP_011528499.1:p.Tyr422Phe
XM_011530197.2:c.1265A>T XP_011528499.1:p.Tyr422Phe
XM_017028803.1:c.1265A>T XP_016884292.1:p.Tyr422Phe
XM_017028804.1:c.1265A>T XP_016884293.1:p.Tyr422Phe
XM_017028805.1:c.1265A>T XP_016884294.1:p.Tyr422Phe
XM_017028806.1:c.1265A>T XP_016884295.1:p.Tyr422Phe
NM_002473.6:c.1265A>T MANE Select NP_002464.1:p.Tyr422Phe