Canonical Allele Identifier: CA6199153
Community Standard Title: NM_000260.4(MYO7A):c.*38G>A
Gene: MYO7A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77214734G>A , CM000673.2:g.77214734G>A GRCh38
NC_000011.9:g.76925779G>A , CM000673.1:g.76925779G>A GRCh37
NC_000011.8:g.76603427G>A NCBI36
NG_009086.1:g.91470G>A
NG_009086.2:g.91489G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000260.4:c.*38G>A MANE Select NP_000251.3:n.*38G>A
ENST00000409709.9:c.*38G>A MANE Select ENSP00000386331.3:n.*38G>A
NM_000260.3:c.*38G>A NP_000251.3:n.*38G>A
NM_001127180.1:c.*38G>A NP_001120652.1:n.*38G>A
NM_001127180.2:c.*38G>A NP_001120652.1:n.*38G>A
NM_001369365.1:c.*38G>A NP_001356294.1:n.*38G>A
ENST00000409619.6:c.*38G>A ENSP00000386635.2:n.*38G>A
ENST00000409709.7:c.*38G>A ENSP00000386331.3:n.*38G>A
ENST00000458169.2:c.4112G>A ENSP00000417017.2:n.4112G>A
ENST00000458637.6:c.*38G>A ENSP00000392185.2:n.*38G>A
ENST00000481328.7:n.5236G>A
ENST00000605744.1:n.2200G>A
ENST00000670577.1:c.4487G>A
XM_005274012.2:c.*38G>A XP_005274069.1:n.*38G>A
XM_006718561.2:c.*38G>A XP_006718624.1:n.*38G>A
XM_017017780.1:c.*38G>A XP_016873269.1:n.*38G>A
XM_017017784.1:c.*38G>A XP_016873273.1:n.*38G>A
XM_017017788.1:c.*38G>A XP_016873277.1:n.*38G>A
XR_001747885.1:n.6765G>A
XR_001747887.1:n.6751G>A
XR_949941.1:n.6980G>A