Canonical Allele Identifier: CA498430429
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 2823421
ClinVar RCV Id: RCV003706678
MyVariant Identifiers: chr17:g.18049212C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145898C>T , CM000679.2:g.18145898C>T GRCh38
NC_000017.10:g.18049212C>T , CM000679.1:g.18049212C>T GRCh37
NC_000017.9:g.17989937C>T NCBI36
NG_011634.1:g.42193C>T
NG_011634.2:g.42193C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6300C>T MANE Select ENSP00000495481.1:p.His2100=
ENST00000205890.9:c.6300C>T ENSP00000205890.5:p.His2100=
ENST00000615845.4:c.6300C>T ENSP00000481642.1:p.His2100=
NM_016239.3:c.6300C>T NP_057323.3:p.His2100=
XM_011523917.1:c.6240C>T XP_011522219.1:p.His2080=
XM_011523918.1:c.6240C>T XP_011522220.1:p.His2080=
XM_011523921.1:c.6294C>T XP_011522223.1:p.His2098=
XR_934037.1:n.6899C>T
XR_934038.1:n.6899C>T
XM_011523918.2:c.6240C>T XP_011522220.1:p.His2080=
XM_017024714.2:c.6240C>T XP_016880203.1:p.His2080=
XM_017024715.2:c.6303C>T XP_016880204.1:p.His2101=
XM_024450781.1:c.6213+1306C>T XP_024306549.1:n.6213+1306C>T
NM_016239.4:c.6300C>T MANE Select NP_057323.3:p.His2100=