Canonical Allele Identifier: CA2615269388
Gene: MYO7A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77214753G>T , CM000673.2:g.77214753G>T GRCh38
NC_000011.9:g.76925798G>T , CM000673.1:g.76925798G>T GRCh37
NC_000011.8:g.76603446G>T NCBI36
NG_009086.1:g.91489G>T
NG_009086.2:g.91508G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.*57G>T MANE Select ENSP00000386331.3:n.*57G>T
ENST00000670577.1:c.4506G>T
ENST00000409619.6:c.*57G>T ENSP00000386635.2:n.*57G>T
ENST00000409709.7:c.*57G>T ENSP00000386331.3:n.*57G>T
ENST00000458169.2:c.4131G>T ENSP00000417017.2:n.4131G>T
ENST00000458637.6:c.*57G>T ENSP00000392185.2:n.*57G>T
ENST00000481328.7:n.5255G>T
ENST00000605744.1:n.2219G>T
NM_000260.3:c.*57G>T NP_000251.3:n.*57G>T
NM_001127180.1:c.*57G>T NP_001120652.1:n.*57G>T
XM_005274012.2:c.*57G>T XP_005274069.1:n.*57G>T
XM_006718561.2:c.*57G>T XP_006718624.1:n.*57G>T
XR_949941.1:n.6999G>T
XM_017017780.1:c.*57G>T XP_016873269.1:n.*57G>T
XM_017017784.1:c.*57G>T XP_016873273.1:n.*57G>T
XM_017017788.1:c.*57G>T XP_016873277.1:n.*57G>T
XR_001747885.1:n.6784G>T
XR_001747887.1:n.6770G>T
NM_000260.4:c.*57G>T MANE Select NP_000251.3:n.*57G>T
NM_001127180.2:c.*57G>T NP_001120652.1:n.*57G>T
NM_001369365.1:c.*57G>T NP_001356294.1:n.*57G>T