Canonical Allele Identifier: CA273206
Gene: MYO15A HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.18151952G>A
GRCh37 chr17:g.18055266G>A
gnomAD v2:
17:18055266 G / A
gnomAD v3:
17:18151952 G / A
gnomAD v4:
chr17-18151952-G-A
Joint Max Group AF 0.00000706 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000592 (NFE)
ClinVar RCV:
RCV000151411
RCV001723714
ClinVar Variation:
164552
dbSNP:
727503316
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18151952G>A , CM000679.2:g.18151952G>A GRCh38
NC_000017.10:g.18055266G>A , CM000679.1:g.18055266G>A GRCh37
NC_000017.9:g.17995991G>A NCBI36
NG_011634.1:g.48247G>A
NG_011634.2:g.48247G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.7893+1G>A MANE Select ENSP00000495481.1:n.7893+1G>A
ENST00000205890.9:c.7893+1G>A ENSP00000205890.5:n.7893+1G>A
ENST00000615845.4:c.7893+1G>A ENSP00000481642.1:n.7893+1G>A
NM_016239.3:c.7893+1G>A NP_057323.3:n.7893+1G>A
XM_011523921.1:c.7887+1G>A XP_011522223.1:n.7887+1G>A
XR_934293.1:n.131-46C>T
XR_934294.1:n.131-46C>T
XR_934295.1:n.131-227C>T
XM_017024714.2:c.7833+1G>A XP_016880203.1:n.7833+1G>A
XM_017024715.2:c.7896+1G>A XP_016880204.1:n.7896+1G>A
XR_934293.2:n.74-46C>T
XR_934294.2:n.74-46C>T
NM_016239.4:c.7893+1G>A MANE Select NP_057323.3:n.7893+1G>A
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