Canonical Allele Identifier: CA398606867

Gene: MYO15A

Linked Data

• MyVariant Identifiers: chr17:g.18049321C>G (hg19) ; chr17:g.18146007C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18146007C>G , CM000679.2:g.18146007C>G	GRCh38
NC_000017.10:g.18049321C>G , CM000679.1:g.18049321C>G	GRCh37
NC_000017.9:g.17990046C>G	NCBI36
NG_011634.1:g.42302C>G
NG_011634.2:g.42302C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.6409C>G MANE Select	ENSP00000495481.1:p.His2137Asp
ENST00000205890.9:c.6409C>G	ENSP00000205890.5:p.His2137Asp
ENST00000615845.4:c.6409C>G	ENSP00000481642.1:p.His2137Asp
NM_016239.3:c.6409C>G	NP_057323.3:p.His2137Asp
XM_011523917.1:c.6349C>G	XP_011522219.1:p.His2117Asp
XM_011523918.1:c.6342+7C>G	XP_011522220.1:n.6342+7C>G
XM_011523921.1:c.6403C>G	XP_011522223.1:p.His2135Asp
XR_934037.1:n.7008C>G
XR_934038.1:n.7008C>G
XM_011523918.2:c.6342+7C>G	XP_011522220.1:n.6342+7C>G
XM_017024714.2:c.6349C>G	XP_016880203.1:p.His2117Asp
XM_017024715.2:c.6412C>G	XP_016880204.1:p.His2138Asp
XM_024450781.1:c.6213+1415C>G	XP_024306549.1:n.6213+1415C>G
NM_016239.4:c.6409C>G MANE Select	NP_057323.3:p.His2137Asp