Canonical Allele Identifier: CA398606860
Gene: MYO15A HGNC NCBI

Linked Data

dbSNP Id: rs1223551594
gnomAD v2: 17-18049320-G-C
gnomAD v4: 17-18146006-G-C
MyVariant Identifiers: chr17:g.18049320G>C (hg19) chr17:g.18146006G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146006G>C , CM000679.2:g.18146006G>C GRCh38
NC_000017.10:g.18049320G>C , CM000679.1:g.18049320G>C GRCh37
NC_000017.9:g.17990045G>C NCBI36
NG_011634.1:g.42301G>C
NG_011634.2:g.42301G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6408G>C MANE Select ENSP00000495481.1:p.Trp2136Cys
ENST00000205890.9:c.6408G>C ENSP00000205890.5:p.Trp2136Cys
ENST00000615845.4:c.6408G>C ENSP00000481642.1:p.Trp2136Cys
NM_016239.3:c.6408G>C NP_057323.3:p.Trp2136Cys
XM_011523917.1:c.6348G>C XP_011522219.1:p.Trp2116Cys
XM_011523918.1:c.6342+6G>C XP_011522220.1:n.6342+6G>C
XM_011523921.1:c.6402G>C XP_011522223.1:p.Trp2134Cys
XR_934037.1:n.7007G>C
XR_934038.1:n.7007G>C
XM_011523918.2:c.6342+6G>C XP_011522220.1:n.6342+6G>C
XM_017024714.2:c.6348G>C XP_016880203.1:p.Trp2116Cys
XM_017024715.2:c.6411G>C XP_016880204.1:p.Trp2137Cys
XM_024450781.1:c.6213+1414G>C XP_024306549.1:n.6213+1414G>C
NM_016239.4:c.6408G>C MANE Select NP_057323.3:p.Trp2136Cys
Search 100 bp 5'
Search 100 bp 3'