Canonical Allele Identifier: CA498430232
Gene: MYO15A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.18049188C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145874C>T , CM000679.2:g.18145874C>T GRCh38
NC_000017.10:g.18049188C>T , CM000679.1:g.18049188C>T GRCh37
NC_000017.9:g.17989913C>T NCBI36
NG_011634.1:g.42169C>T
NG_011634.2:g.42169C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6276C>T MANE Select ENSP00000495481.1:p.Ile2092=
ENST00000205890.9:c.6276C>T ENSP00000205890.5:p.Ile2092=
ENST00000615845.4:c.6276C>T ENSP00000481642.1:p.Ile2092=
NM_016239.3:c.6276C>T NP_057323.3:p.Ile2092=
XM_011523917.1:c.6216C>T XP_011522219.1:p.Ile2072=
XM_011523918.1:c.6216C>T XP_011522220.1:p.Ile2072=
XM_011523921.1:c.6270C>T XP_011522223.1:p.Ile2090=
XR_934037.1:n.6875C>T
XR_934038.1:n.6875C>T
XM_011523918.2:c.6216C>T XP_011522220.1:p.Ile2072=
XM_017024714.2:c.6216C>T XP_016880203.1:p.Ile2072=
XM_017024715.2:c.6279C>T XP_016880204.1:p.Ile2093=
XM_024450781.1:c.6213+1282C>T XP_024306549.1:n.6213+1282C>T
NM_016239.4:c.6276C>T MANE Select NP_057323.3:p.Ile2092=