Canonical Allele Identifier: CA6196964
Gene: MYO7A HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77130587A>G , CM000673.2:g.77130587A>G GRCh38
NC_000011.9:g.76841633A>G , CM000673.1:g.76841633A>G GRCh37
NC_000011.8:g.76519281A>G NCBI36
NG_009086.1:g.7324A>G
NG_009086.2:g.7342A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.-46-2A>G MANE Select ENSP00000386331.3:n.-46-2A>G
ENST00000409619.6:c.-159-2A>G ENSP00000386635.2:n.-159-2A>G
ENST00000409709.7:c.-46-2A>G ENSP00000386331.3:n.-46-2A>G
ENST00000409893.5:c.-46-2A>G ENSP00000386689.1:n.-46-2A>G
ENST00000458637.6:c.-46-2A>G ENSP00000392185.2:n.-46-2A>G
ENST00000620575.4:c.-46-2A>G ENSP00000477640.1:n.-46-2A>G
NM_000260.3:c.-46-2A>G NP_000251.3:n.-46-2A>G
NM_001127179.2:c.-46-2A>G NP_001120651.2:n.-46-2A>G
NM_001127180.1:c.-46-2A>G NP_001120652.1:n.-46-2A>G
XM_005274012.2:c.-46-2A>G XP_005274069.1:n.-46-2A>G
XM_006718558.2:c.-46-2A>G XP_006718621.1:n.-46-2A>G
XM_006718559.2:c.-46-2A>G XP_006718622.1:n.-46-2A>G
XM_006718560.2:c.-46-2A>G XP_006718623.1:n.-46-2A>G
XM_006718561.2:c.-46-2A>G XP_006718624.1:n.-46-2A>G
XM_011545044.1:c.-46-2A>G XP_011543346.1:n.-46-2A>G
XM_011545045.1:c.-46-2A>G XP_011543347.1:n.-46-2A>G
XM_011545047.1:c.-46-2A>G XP_011543349.1:n.-46-2A>G
XM_011545048.1:c.-46-2A>G XP_011543350.1:n.-46-2A>G
XM_011545049.1:c.-46-2A>G XP_011543351.1:n.-46-2A>G
XM_011545051.1:c.-46-2A>G XP_011543353.1:n.-46-2A>G
XM_011545052.1:c.-46-2A>G XP_011543354.1:n.-46-2A>G
XR_949938.1:n.275-2A>G
XR_949941.1:n.275-2A>G
XR_949942.1:n.277-2A>G
XR_949943.1:n.277-2A>G
XM_011545044.2:c.-46-2A>G XP_011543346.1:n.-46-2A>G
NM_000260.4:c.-46-2A>G MANE Select NP_000251.3:n.-46-2A>G
NM_001127180.2:c.-46-2A>G NP_001120652.1:n.-46-2A>G
NM_001369365.1:c.-159-2A>G NP_001356294.1:n.-159-2A>G