Canonical Allele Identifier: CA398606557

Gene: MYO15A

Linked Data

• gnomAD v4: 17-18145933-A-G
• MyVariant Identifiers: chr17:g.18049247A>G (hg19) ; chr17:g.18145933A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18145933A>G , CM000679.2:g.18145933A>G	GRCh38
NC_000017.10:g.18049247A>G , CM000679.1:g.18049247A>G	GRCh37
NC_000017.9:g.17989972A>G	NCBI36
NG_011634.1:g.42228A>G
NG_011634.2:g.42228A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.6335A>G MANE Select	ENSP00000495481.1:p.Tyr2112Cys
ENST00000205890.9:c.6335A>G	ENSP00000205890.5:p.Tyr2112Cys
ENST00000615845.4:c.6335A>G	ENSP00000481642.1:p.Tyr2112Cys
NM_016239.3:c.6335A>G	NP_057323.3:p.Tyr2112Cys
XM_011523917.1:c.6275A>G	XP_011522219.1:p.Tyr2092Cys
XM_011523918.1:c.6275A>G	XP_011522220.1:p.Tyr2092Cys
XM_011523921.1:c.6329A>G	XP_011522223.1:p.Tyr2110Cys
XR_934037.1:n.6934A>G
XR_934038.1:n.6934A>G
XM_011523918.2:c.6275A>G	XP_011522220.1:p.Tyr2092Cys
XM_017024714.2:c.6275A>G	XP_016880203.1:p.Tyr2092Cys
XM_017024715.2:c.6338A>G	XP_016880204.1:p.Tyr2113Cys
XM_024450781.1:c.6213+1341A>G	XP_024306549.1:n.6213+1341A>G
NM_016239.4:c.6335A>G MANE Select	NP_057323.3:p.Tyr2112Cys