Canonical Allele Identifier: CA1984131593
Gene: MYO7A HGNC NCBI

Linked Data

dbSNP Id: rs1958051458

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77214754C>T , CM000673.2:g.77214754C>T GRCh38
NC_000011.9:g.76925799C>T , CM000673.1:g.76925799C>T GRCh37
NC_000011.8:g.76603447C>T NCBI36
NG_009086.1:g.91490C>T
NG_009086.2:g.91509C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.*58C>T MANE Select ENSP00000386331.3:n.*58C>T
ENST00000670577.1:c.4507C>T
ENST00000409619.6:c.*58C>T ENSP00000386635.2:n.*58C>T
ENST00000409709.7:c.*58C>T ENSP00000386331.3:n.*58C>T
ENST00000458169.2:c.4132C>T ENSP00000417017.2:n.4132C>T
ENST00000458637.6:c.*58C>T ENSP00000392185.2:n.*58C>T
ENST00000481328.7:n.5256C>T
ENST00000605744.1:n.2220C>T
NM_000260.3:c.*58C>T NP_000251.3:n.*58C>T
NM_001127180.1:c.*58C>T NP_001120652.1:n.*58C>T
XM_005274012.2:c.*58C>T XP_005274069.1:n.*58C>T
XM_006718561.2:c.*58C>T XP_006718624.1:n.*58C>T
XR_949941.1:n.7000C>T
XM_017017780.1:c.*58C>T XP_016873269.1:n.*58C>T
XM_017017784.1:c.*58C>T XP_016873273.1:n.*58C>T
XM_017017788.1:c.*58C>T XP_016873277.1:n.*58C>T
XR_001747885.1:n.6785C>T
XR_001747887.1:n.6771C>T
NM_000260.4:c.*58C>T MANE Select NP_000251.3:n.*58C>T
NM_001127180.2:c.*58C>T NP_001120652.1:n.*58C>T
NM_001369365.1:c.*58C>T NP_001356294.1:n.*58C>T