Canonical Allele Identifier: CA2636448781
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 2776250
ClinVar RCV Id: RCV003663073
gnomAD v4: 17-18146119-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146119T>C , CM000679.2:g.18146119T>C GRCh38
NC_000017.10:g.18049433T>C , CM000679.1:g.18049433T>C GRCh37
NC_000017.9:g.17990158T>C NCBI36
NG_011634.1:g.42414T>C
NG_011634.2:g.42414T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6509+12T>C MANE Select ENSP00000495481.1:n.6509+12T>C
ENST00000205890.9:c.6509+12T>C ENSP00000205890.5:n.6509+12T>C
ENST00000578999.1:n.94+12T>C
ENST00000615845.4:c.6509+12T>C ENSP00000481642.1:n.6509+12T>C
NM_016239.3:c.6509+12T>C NP_057323.3:n.6509+12T>C
XM_011523917.1:c.6449+12T>C XP_011522219.1:n.6449+12T>C
XM_011523918.1:c.6342+119T>C XP_011522220.1:n.6342+119T>C
XM_011523921.1:c.6503+12T>C XP_011522223.1:n.6503+12T>C
XR_934037.1:n.7108+12T>C
XR_934038.1:n.7108+12T>C
XM_011523918.2:c.6342+119T>C XP_011522220.1:n.6342+119T>C
XM_017024714.2:c.6449+12T>C XP_016880203.1:n.6449+12T>C
XM_017024715.2:c.6512+12T>C XP_016880204.1:n.6512+12T>C
XM_024450781.1:c.6213+1527T>C XP_024306549.1:n.6213+1527T>C
NM_016239.4:c.6509+12T>C MANE Select NP_057323.3:n.6509+12T>C
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