Canonical Allele Identifier: CA398606961
Gene: MYO15A HGNC NCBI

Linked Data

dbSNP Id: rs1597798518
gnomAD v4: 17-18146018-T-A
MyVariant Identifiers: chr17:g.18049332T>A (hg19) chr17:g.18146018T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146018T>A , CM000679.2:g.18146018T>A GRCh38
NC_000017.10:g.18049332T>A , CM000679.1:g.18049332T>A GRCh37
NC_000017.9:g.17990057T>A NCBI36
NG_011634.1:g.42313T>A
NG_011634.2:g.42313T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6420T>A MANE Select ENSP00000495481.1:p.Asn2140Lys
ENST00000205890.9:c.6420T>A ENSP00000205890.5:p.Asn2140Lys
ENST00000578999.1:n.5T>A
ENST00000615845.4:c.6420T>A ENSP00000481642.1:p.Asn2140Lys
NM_016239.3:c.6420T>A NP_057323.3:p.Asn2140Lys
XM_011523917.1:c.6360T>A XP_011522219.1:p.Asn2120Lys
XM_011523918.1:c.6342+18T>A XP_011522220.1:n.6342+18T>A
XM_011523921.1:c.6414T>A XP_011522223.1:p.Asn2138Lys
XR_934037.1:n.7019T>A
XR_934038.1:n.7019T>A
XM_011523918.2:c.6342+18T>A XP_011522220.1:n.6342+18T>A
XM_017024714.2:c.6360T>A XP_016880203.1:p.Asn2120Lys
XM_017024715.2:c.6423T>A XP_016880204.1:p.Asn2141Lys
XM_024450781.1:c.6213+1426T>A XP_024306549.1:n.6213+1426T>A
NM_016239.4:c.6420T>A MANE Select NP_057323.3:p.Asn2140Lys
Search 100 bp 5'
Search 100 bp 3'