Canonical Allele Identifier: CA7641174
Community Standard Title: NM_006901.4(MYO9A):c.5383C>T (p.His1795Tyr)
Gene: MYO9A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71883609G>A , CM000677.2:g.71883609G>A GRCh38
NC_000015.9:g.72175950G>A , CM000677.1:g.72175950G>A GRCh37
NC_000015.8:g.69963004G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006901.4:c.5383C>T MANE Select NP_008832.2:p.His1795Tyr
ENST00000356056.10:c.5383C>T MANE Select ENSP00000348349.5:p.His1795Tyr
NM_006901.3:c.5383C>T NP_008832.2:p.His1795Tyr
ENST00000356056.9:c.5383C>T ENSP00000348349.5:p.His1795Tyr
ENST00000444904.5:c.5383C>T ENSP00000398250.2:p.His1795Tyr
ENST00000561618.5:c.1932C>T
ENST00000564571.5:c.5383C>T ENSP00000456192.1:p.His1795Tyr
XM_006720539.1:c.5596C>T XP_006720602.1:p.His1866Tyr
XM_006720539.3:c.5596C>T XP_006720602.1:p.His1866Tyr
XM_011521613.1:c.5599C>T XP_011519915.1:p.His1867Tyr
XM_011521613.3:c.5599C>T XP_011519915.1:p.His1867Tyr
XM_011521614.1:c.5599C>T XP_011519916.1:p.His1867Tyr
XM_011521614.3:c.5599C>T XP_011519916.1:p.His1867Tyr
XM_011521615.1:c.5599C>T XP_011519917.1:p.His1867Tyr
XM_011521615.3:c.5599C>T XP_011519917.1:p.His1867Tyr
XM_011521616.1:c.5599C>T XP_011519918.1:p.His1867Tyr
XM_011521616.3:c.5599C>T XP_011519918.1:p.His1867Tyr
XM_011521617.1:c.5596C>T XP_011519919.1:p.His1866Tyr
XM_011521617.3:c.5596C>T XP_011519919.1:p.His1866Tyr
XM_011521618.1:c.5599C>T XP_011519920.1:p.His1867Tyr
XM_011521618.3:c.5599C>T XP_011519920.1:p.His1867Tyr
XM_011521619.1:c.5542C>T XP_011519921.1:p.His1848Tyr
XM_011521619.3:c.5542C>T XP_011519921.1:p.His1848Tyr
XM_011521620.1:c.5539C>T XP_011519922.1:p.His1847Tyr
XM_011521620.3:c.5539C>T XP_011519922.1:p.His1847Tyr
XM_011521621.1:c.5479C>T XP_011519923.1:p.His1827Tyr
XM_011521621.3:c.5479C>T XP_011519923.1:p.His1827Tyr
XM_011521622.1:c.5383C>T XP_011519924.1:p.His1795Tyr
XM_011521622.3:c.5383C>T XP_011519924.1:p.His1795Tyr
XM_011521623.1:c.2896C>T XP_011519925.1:p.His966Tyr
XM_011521623.3:c.2896C>T XP_011519925.1:p.His966Tyr
XM_017022229.1:c.5383C>T XP_016877718.1:p.His1795Tyr
XM_017022230.2:c.5326C>T XP_016877719.1:p.His1776Tyr