Canonical Allele Identifier: CA498430517
Gene: MYO15A HGNC NCBI

Linked Data

COSMIC: COSM976213
MyVariant Identifiers: chr17:g.18049347G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146033G>A , CM000679.2:g.18146033G>A GRCh38
NC_000017.10:g.18049347G>A , CM000679.1:g.18049347G>A GRCh37
NC_000017.9:g.17990072G>A NCBI36
NG_011634.1:g.42328G>A
NG_011634.2:g.42328G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6435G>A MANE Select ENSP00000495481.1:p.Glu2145=
ENST00000205890.9:c.6435G>A ENSP00000205890.5:p.Glu2145=
ENST00000578999.1:n.20G>A
ENST00000615845.4:c.6435G>A ENSP00000481642.1:p.Glu2145=
NM_016239.3:c.6435G>A NP_057323.3:p.Glu2145=
XM_011523917.1:c.6375G>A XP_011522219.1:p.Glu2125=
XM_011523918.1:c.6342+33G>A XP_011522220.1:n.6342+33G>A
XM_011523921.1:c.6429G>A XP_011522223.1:p.Glu2143=
XR_934037.1:n.7034G>A
XR_934038.1:n.7034G>A
XM_011523918.2:c.6342+33G>A XP_011522220.1:n.6342+33G>A
XM_017024714.2:c.6375G>A XP_016880203.1:p.Glu2125=
XM_017024715.2:c.6438G>A XP_016880204.1:p.Glu2146=
XM_024450781.1:c.6213+1441G>A XP_024306549.1:n.6213+1441G>A
NM_016239.4:c.6435G>A MANE Select NP_057323.3:p.Glu2145=