Canonical Allele Identifier: CA8424584
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 1301943
ClinVar RCV Id: RCV002225011
dbSNP Id: rs769491829
ExAC: 17:18049309 A / G
gnomAD v2: 17-18049309-A-G
gnomAD v4: 17-18145995-A-G
MyVariant Identifiers: chr17:g.18049309A>G (hg19) chr17:g.18145995A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145995A>G , CM000679.2:g.18145995A>G GRCh38
NC_000017.10:g.18049309A>G , CM000679.1:g.18049309A>G GRCh37
NC_000017.9:g.17990034A>G NCBI36
NG_011634.1:g.42290A>G
NG_011634.2:g.42290A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6397A>G MANE Select ENSP00000495481.1:p.Asn2133Asp
ENST00000205890.9:c.6397A>G ENSP00000205890.5:p.Asn2133Asp
ENST00000615845.4:c.6397A>G ENSP00000481642.1:p.Asn2133Asp
NM_016239.3:c.6397A>G NP_057323.3:p.Asn2133Asp
XM_011523917.1:c.6337A>G XP_011522219.1:p.Asn2113Asp
XM_011523918.1:c.6337A>G XP_011522220.1:p.Asn2113Asp
XM_011523921.1:c.6391A>G XP_011522223.1:p.Asn2131Asp
XR_934037.1:n.6996A>G
XR_934038.1:n.6996A>G
XM_011523918.2:c.6337A>G XP_011522220.1:p.Asn2113Asp
XM_017024714.2:c.6337A>G XP_016880203.1:p.Asn2113Asp
XM_017024715.2:c.6400A>G XP_016880204.1:p.Asn2134Asp
XM_024450781.1:c.6213+1403A>G XP_024306549.1:n.6213+1403A>G
NM_016239.4:c.6397A>G MANE Select NP_057323.3:p.Asn2133Asp
Search 100 bp 5'
Search 100 bp 3'