Canonical Allele Identifier: CA8424586
Gene: MYO15A HGNC NCBI

Linked Data

dbSNP Id: rs374716848

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146001G>C , CM000679.2:g.18146001G>C GRCh38
NC_000017.10:g.18049315G>C , CM000679.1:g.18049315G>C GRCh37
NC_000017.9:g.17990040G>C NCBI36
NG_011634.1:g.42296G>C
NG_011634.2:g.42296G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6403G>C MANE Select ENSP00000495481.1:p.Val2135Leu
ENST00000205890.9:c.6403G>C ENSP00000205890.5:p.Val2135Leu
ENST00000615845.4:c.6403G>C ENSP00000481642.1:p.Val2135Leu
NM_016239.3:c.6403G>C NP_057323.3:p.Val2135Leu
XM_011523917.1:c.6343G>C XP_011522219.1:p.Val2115Leu
XM_011523918.1:c.6342+1G>C XP_011522220.1:n.6342+1G>C
XM_011523921.1:c.6397G>C XP_011522223.1:p.Val2133Leu
XR_934037.1:n.7002G>C
XR_934038.1:n.7002G>C
XM_011523918.2:c.6342+1G>C XP_011522220.1:n.6342+1G>C
XM_017024714.2:c.6343G>C XP_016880203.1:p.Val2115Leu
XM_017024715.2:c.6406G>C XP_016880204.1:p.Val2136Leu
XM_024450781.1:c.6213+1409G>C XP_024306549.1:n.6213+1409G>C
NM_016239.4:c.6403G>C MANE Select NP_057323.3:p.Val2135Leu