Canonical Allele Identifier: CA224830899
Community Standard Title: NM_000260.4(MYO7A):c.*392A>G
Gene: MYO7A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77215088A>G , CM000673.2:g.77215088A>G GRCh38
NC_000011.9:g.76926133A>G , CM000673.1:g.76926133A>G GRCh37
NC_000011.8:g.76603781A>G NCBI36
NG_009086.1:g.91824A>G
NG_009086.2:g.91843A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000260.4:c.*392A>G MANE Select NP_000251.3:n.*392A>G
ENST00000409709.9:c.*392A>G MANE Select ENSP00000386331.3:n.*392A>G
NM_000260.3:c.*392A>G NP_000251.3:n.*392A>G
NM_001127180.1:c.*392A>G NP_001120652.1:n.*392A>G
NM_001127180.2:c.*392A>G NP_001120652.1:n.*392A>G
NM_001369365.1:c.*392A>G NP_001356294.1:n.*392A>G
ENST00000409709.7:c.*392A>G ENSP00000386331.3:n.*392A>G
ENST00000458169.2:c.4466A>G ENSP00000417017.2:n.4466A>G
ENST00000458637.6:c.*392A>G ENSP00000392185.2:n.*392A>G
ENST00000481328.7:n.5590A>G
ENST00000605744.1:n.2554A>G
ENST00000670577.1:c.4841A>G
XM_005274012.2:c.*392A>G XP_005274069.1:n.*392A>G
XM_006718561.2:c.*392A>G XP_006718624.1:n.*392A>G
XM_017017780.1:c.*392A>G XP_016873269.1:n.*392A>G
XM_017017784.1:c.*392A>G XP_016873273.1:n.*392A>G
XM_017017788.1:c.*392A>G XP_016873277.1:n.*392A>G
XR_001747885.1:n.7119A>G
XR_001747887.1:n.7105A>G
XR_949941.1:n.7334A>G