Canonical Allele Identifier: CA398593293
Community Standard Title: NM_016239.4(MYO15A):c.4252G>C (p.Gly1418Arg)
Gene: MYO15A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18132498G>C , CM000679.2:g.18132498G>C GRCh38
NC_000017.10:g.18035812G>C , CM000679.1:g.18035812G>C GRCh37
NC_000017.9:g.17976537G>C NCBI36
NG_011634.1:g.28793G>C
NG_011634.2:g.28793G>C

Transcript Alleles

HGVS Amino-acid Change
NM_016239.4:c.4252G>C MANE Select NP_057323.3:p.Gly1418Arg
ENST00000647165.2:c.4252G>C MANE Select ENSP00000495481.1:p.Gly1418Arg
NM_016239.3:c.4252G>C NP_057323.3:p.Gly1418Arg
ENST00000205890.9:c.4252G>C ENSP00000205890.5:p.Gly1418Arg
ENST00000615845.4:c.4252G>C ENSP00000481642.1:p.Gly1418Arg
XM_011523917.1:c.4246G>C XP_011522219.1:p.Gly1416Arg
XM_011523918.1:c.4246G>C XP_011522220.1:p.Gly1416Arg
XM_011523918.2:c.4246G>C XP_011522220.1:p.Gly1416Arg
XM_011523919.1:c.4246G>C XP_011522221.1:p.Gly1416Arg
XM_011523920.1:c.4246G>C XP_011522222.1:p.Gly1416Arg
XM_011523921.1:c.4246G>C XP_011522223.1:p.Gly1416Arg
XM_017024714.2:c.4246G>C XP_016880203.1:p.Gly1416Arg
XM_017024715.2:c.4255G>C XP_016880204.1:p.Gly1419Arg
XM_024450780.1:c.4246G>C XP_024306548.1:p.Gly1416Arg
XM_024450781.1:c.4246G>C XP_024306549.1:p.Gly1416Arg
XM_024450782.1:c.4246G>C XP_024306550.1:p.Gly1416Arg
XR_934037.1:n.4905G>C
XR_934038.1:n.4905G>C
XR_934039.1:n.4905G>C
XR_934039.2:n.4944G>C