Canonical Allele Identifier: CA381951951
Community Standard Title: NM_000260.4(MYO7A):c.5169-2A>G
Gene: MYO7A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77203058A>G , CM000673.2:g.77203058A>G GRCh38
NC_000011.9:g.76914103A>G , CM000673.1:g.76914103A>G GRCh37
NC_000011.8:g.76591751A>G NCBI36
NG_009086.1:g.79794A>G
NG_009086.2:g.79813A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000260.4:c.5169-2A>G MANE Select NP_000251.3:n.5169-2A>G
ENST00000409709.9:c.5169-2A>G MANE Select ENSP00000386331.3:n.5169-2A>G
NM_000260.3:c.5169-2A>G NP_000251.3:n.5169-2A>G
NM_001127180.1:c.5055-2A>G NP_001120652.1:n.5055-2A>G
NM_001127180.2:c.5055-2A>G NP_001120652.1:n.5055-2A>G
NM_001369365.1:c.5022-2A>G NP_001356294.1:n.5022-2A>G
ENST00000409619.6:c.5022-2A>G ENSP00000386635.2:n.5022-2A>G
ENST00000409709.7:c.5169-2A>G ENSP00000386331.3:n.5169-2A>G
ENST00000458169.2:c.2595-2A>G ENSP00000417017.2:n.2595-2A>G
ENST00000458637.6:c.5055-2A>G ENSP00000392185.2:n.5055-2A>G
ENST00000481328.7:n.2705-2A>G
ENST00000670577.1:c.3010-2A>G
XM_005274012.2:c.5052-2A>G XP_005274069.1:n.5052-2A>G
XM_006718558.2:c.5160-2A>G XP_006718621.1:n.5160-2A>G
XM_006718559.2:c.5055-2A>G XP_006718622.1:n.5055-2A>G
XM_006718560.2:c.5052-2A>G XP_006718623.1:n.5052-2A>G
XM_006718561.2:c.5055-2A>G XP_006718624.1:n.5055-2A>G
XM_011545044.1:c.5169-2A>G XP_011543346.1:n.5169-2A>G
XM_011545044.2:c.5169-2A>G XP_011543346.1:n.5169-2A>G
XM_011545045.1:c.5163-2A>G XP_011543347.1:n.5163-2A>G
XM_011545046.1:c.5136-2A>G XP_011543348.1:n.5136-2A>G
XM_011545046.2:c.5259-2A>G XP_011543348.2:n.5259-2A>G
XM_011545047.1:c.5073-2A>G XP_011543349.1:n.5073-2A>G
XM_011545048.1:c.4944-2A>G XP_011543350.1:n.4944-2A>G
XM_011545049.1:c.4932-2A>G XP_011543351.1:n.4932-2A>G
XM_011545050.1:c.4905-2A>G XP_011543352.1:n.4905-2A>G
XM_011545050.2:c.4905-2A>G XP_011543352.1:n.4905-2A>G
XM_011545051.1:c.5169-2A>G XP_011543353.1:n.5169-2A>G
XM_011545052.1:c.5169-2A>G XP_011543354.1:n.5169-2A>G
XM_017017778.1:c.5253-2A>G XP_016873267.1:n.5253-2A>G
XM_017017779.1:c.5250-2A>G XP_016873268.1:n.5250-2A>G
XM_017017780.1:c.5259-2A>G XP_016873269.1:n.5259-2A>G
XM_017017781.1:c.5163-2A>G XP_016873270.1:n.5163-2A>G
XM_017017782.1:c.5145-2A>G XP_016873271.1:n.5145-2A>G
XM_017017783.1:c.5142-2A>G XP_016873272.1:n.5142-2A>G
XM_017017784.1:c.5142-2A>G XP_016873273.1:n.5142-2A>G
XM_017017785.1:c.5022-2A>G XP_016873274.1:n.5022-2A>G
XM_017017786.1:c.5259-2A>G XP_016873275.1:n.5259-2A>G
XM_017017788.1:c.5145-2A>G XP_016873277.1:n.5145-2A>G
XR_001747885.1:n.5274-2A>G
XR_001747886.1:n.5274-2A>G
XR_001747887.1:n.5274-2A>G
XR_001747888.1:n.5274-2A>G
XR_949938.1:n.5489-2A>G
XR_949941.1:n.5489-2A>G
XR_949942.1:n.5491-2A>G