Canonical Allele Identifier: CA8423132
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 322119
dbSNP Id: rs547305039

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18120402C>T , CM000679.2:g.18120402C>T GRCh38
NC_000017.10:g.18023716C>T , CM000679.1:g.18023716C>T GRCh37
NC_000017.9:g.17964441C>T NCBI36
NG_011634.1:g.16697C>T
NG_011634.2:g.16697C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.1602C>T MANE Select ENSP00000495481.1:p.Phe534=
ENST00000205890.9:c.1602C>T ENSP00000205890.5:p.Phe534=
ENST00000583079.1:n.1235C>T
ENST00000615845.4:c.1602C>T ENSP00000481642.1:p.Phe534=
NM_016239.3:c.1602C>T NP_057323.3:p.Phe534=
XM_011523917.1:c.1602C>T XP_011522219.1:p.Phe534=
XM_011523918.1:c.1602C>T XP_011522220.1:p.Phe534=
XM_011523919.1:c.1602C>T XP_011522221.1:p.Phe534=
XM_011523920.1:c.1602C>T XP_011522222.1:p.Phe534=
XM_011523921.1:c.1602C>T XP_011522223.1:p.Phe534=
XR_934037.1:n.2261C>T
XR_934038.1:n.2261C>T
XR_934039.1:n.2261C>T
XM_011523918.2:c.1602C>T XP_011522220.1:p.Phe534=
XM_017024714.2:c.1602C>T XP_016880203.1:p.Phe534=
XM_017024715.2:c.1602C>T XP_016880204.1:p.Phe534=
XM_024450780.1:c.1602C>T XP_024306548.1:p.Phe534=
XM_024450781.1:c.1602C>T XP_024306549.1:p.Phe534=
XM_024450782.1:c.1602C>T XP_024306550.1:p.Phe534=
XR_934039.2:n.2300C>T
NM_016239.4:c.1602C>T MANE Select NP_057323.3:p.Phe534=