Canonical Allele Identifier: CA398607299
Gene: MYO15A HGNC NCBI

Linked Data

gnomAD v4: 17-18146074-C-T
MyVariant Identifiers: chr17:g.18049388C>T (hg19) chr17:g.18146074C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146074C>T , CM000679.2:g.18146074C>T GRCh38
NC_000017.10:g.18049388C>T , CM000679.1:g.18049388C>T GRCh37
NC_000017.9:g.17990113C>T NCBI36
NG_011634.1:g.42369C>T
NG_011634.2:g.42369C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6476C>T MANE Select ENSP00000495481.1:p.Ala2159Val
ENST00000205890.9:c.6476C>T ENSP00000205890.5:p.Ala2159Val
ENST00000578999.1:n.61C>T
ENST00000615845.4:c.6476C>T ENSP00000481642.1:p.Ala2159Val
NM_016239.3:c.6476C>T NP_057323.3:p.Ala2159Val
XM_011523917.1:c.6416C>T XP_011522219.1:p.Ala2139Val
XM_011523918.1:c.6342+74C>T XP_011522220.1:n.6342+74C>T
XM_011523921.1:c.6470C>T XP_011522223.1:p.Ala2157Val
XR_934037.1:n.7075C>T
XR_934038.1:n.7075C>T
XM_011523918.2:c.6342+74C>T XP_011522220.1:n.6342+74C>T
XM_017024714.2:c.6416C>T XP_016880203.1:p.Ala2139Val
XM_017024715.2:c.6479C>T XP_016880204.1:p.Ala2160Val
XM_024450781.1:c.6213+1482C>T XP_024306549.1:n.6213+1482C>T
NM_016239.4:c.6476C>T MANE Select NP_057323.3:p.Ala2159Val
Search 100 bp 5'
Search 100 bp 3'