Canonical Allele Identifier: CA398606307
Gene: MYO15A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145873T>C , CM000679.2:g.18145873T>C GRCh38
NC_000017.10:g.18049187T>C , CM000679.1:g.18049187T>C GRCh37
NC_000017.9:g.17989912T>C NCBI36
NG_011634.1:g.42168T>C
NG_011634.2:g.42168T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6275T>C MANE Select ENSP00000495481.1:p.Ile2092Thr
ENST00000205890.9:c.6275T>C ENSP00000205890.5:p.Ile2092Thr
ENST00000615845.4:c.6275T>C ENSP00000481642.1:p.Ile2092Thr
NM_016239.3:c.6275T>C NP_057323.3:p.Ile2092Thr
XM_011523917.1:c.6215T>C XP_011522219.1:p.Ile2072Thr
XM_011523918.1:c.6215T>C XP_011522220.1:p.Ile2072Thr
XM_011523921.1:c.6269T>C XP_011522223.1:p.Ile2090Thr
XR_934037.1:n.6874T>C
XR_934038.1:n.6874T>C
XM_011523918.2:c.6215T>C XP_011522220.1:p.Ile2072Thr
XM_017024714.2:c.6215T>C XP_016880203.1:p.Ile2072Thr
XM_017024715.2:c.6278T>C XP_016880204.1:p.Ile2093Thr
XM_024450781.1:c.6213+1281T>C XP_024306549.1:n.6213+1281T>C
NM_016239.4:c.6275T>C MANE Select NP_057323.3:p.Ile2092Thr