Canonical Allele Identifier: CA323584872
Community Standard Title: NM_002473.6(MYH9):c.*195T>C
Gene: MYH9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36282473A>G , CM000684.2:g.36282473A>G GRCh38
NC_000022.10:g.36678519A>G , CM000684.1:g.36678519A>G GRCh37
NC_000022.9:g.35008465A>G NCBI36
NG_011884.2:g.110546T>C , LRG_567:g.110546T>C

Transcript Alleles

HGVS Amino-acid Change
NM_002473.6:c.*195T>C MANE Select NP_002464.1:n.*195T>C
ENST00000216181.11:c.*195T>C MANE Select ENSP00000216181.6:n.*195T>C
NM_002473.5:c.*195T>C , LRG_567t1:c.*195T>C NP_002464.1:n.*195T>C
ENST00000216181.9:c.*195T>C ENSP00000216181.5:n.*195T>C
ENST00000685708.1:n.2511T>C
ENST00000685801.1:c.*195T>C ENSP00000510688.1:n.*195T>C
ENST00000690244.1:n.1414T>C
ENST00000691109.1:n.6373T>C
XM_011530197.1:c.*195T>C XP_011528499.1:n.*195T>C
XM_011530197.2:c.*195T>C XP_011528499.1:n.*195T>C
XM_017028803.1:c.*195T>C XP_016884292.1:n.*195T>C
XM_017028804.1:c.*195T>C XP_016884293.1:n.*195T>C
XM_017028805.1:c.*195T>C XP_016884294.1:n.*195T>C
XM_017028806.1:c.*195T>C XP_016884295.1:n.*195T>C