Canonical Allele Identifier: CA288407369

Gene: MYO15A

Linked Data

• dbSNP Id: rs757273401
• gnomAD v4: 17-18145937-C-G
• MyVariant Identifiers: chr17:g.18049251C>G (hg19) ; chr17:g.18145937C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18145937C>G , CM000679.2:g.18145937C>G	GRCh38
NC_000017.10:g.18049251C>G , CM000679.1:g.18049251C>G	GRCh37
NC_000017.9:g.17989976C>G	NCBI36
NG_011634.1:g.42232C>G
NG_011634.2:g.42232C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.6339C>G MANE Select	ENSP00000495481.1:p.Ile2113Met
ENST00000205890.9:c.6339C>G	ENSP00000205890.5:p.Ile2113Met
ENST00000615845.4:c.6339C>G	ENSP00000481642.1:p.Ile2113Met
NM_016239.3:c.6339C>G	NP_057323.3:p.Ile2113Met
XM_011523917.1:c.6279C>G	XP_011522219.1:p.Ile2093Met
XM_011523918.1:c.6279C>G	XP_011522220.1:p.Ile2093Met
XM_011523921.1:c.6333C>G	XP_011522223.1:p.Ile2111Met
XR_934037.1:n.6938C>G
XR_934038.1:n.6938C>G
XM_011523918.2:c.6279C>G	XP_011522220.1:p.Ile2093Met
XM_017024714.2:c.6279C>G	XP_016880203.1:p.Ile2093Met
XM_017024715.2:c.6342C>G	XP_016880204.1:p.Ile2114Met
XM_024450781.1:c.6213+1345C>G	XP_024306549.1:n.6213+1345C>G
NM_016239.4:c.6339C>G MANE Select	NP_057323.3:p.Ile2113Met