Canonical Allele Identifier: CA411403799
Community Standard Title: NM_002473.6(MYH9):c.1119G>T (p.Lys373Asn)
Gene: MYH9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36318315C>A , CM000684.2:g.36318315C>A GRCh38
NC_000022.10:g.36714360C>A , CM000684.1:g.36714360C>A GRCh37
NC_000022.9:g.35044306C>A NCBI36
NG_011884.2:g.74704G>T , LRG_567:g.74704G>T

Transcript Alleles

HGVS Amino-acid Change
NM_002473.6:c.1119G>T MANE Select NP_002464.1:p.Lys373Asn
ENST00000216181.11:c.1119G>T MANE Select ENSP00000216181.6:p.Lys373Asn
NM_002473.5:c.1119G>T , LRG_567t1:c.1119G>T NP_002464.1:p.Lys373Asn
ENST00000216181.9:c.1119G>T ENSP00000216181.5:p.Lys373Asn
ENST00000477189.1:n.307G>T
ENST00000685187.1:n.1333G>T
ENST00000685801.1:c.1119G>T ENSP00000510688.1:p.Lys373Asn
ENST00000687820.1:n.43G>T
ENST00000691109.1:n.1414G>T
ENST00000691687.1:n.1917G>T
ENST00000692930.1:n.1333G>T
XM_011530197.1:c.1119G>T XP_011528499.1:p.Lys373Asn
XM_011530197.2:c.1119G>T XP_011528499.1:p.Lys373Asn
XM_017028803.1:c.1119G>T XP_016884292.1:p.Lys373Asn
XM_017028804.1:c.1119G>T XP_016884293.1:p.Lys373Asn
XM_017028805.1:c.1119G>T XP_016884294.1:p.Lys373Asn
XM_017028806.1:c.1119G>T XP_016884295.1:p.Lys373Asn