Canonical Allele Identifier: CA8424850
Gene: MYO15A HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.18150923G>T
GRCh37 chr17:g.18054237G>T
gnomAD v2:
17:18054237 G / T
gnomAD v3:
17:18150923 G / T
gnomAD v4:
chr17-18150923-G-T
Joint Max Group AF 0.00074335 (NFE)
Genomes Max Group AF 0.00059874 (NFE)
Exomes Max Group AF 0.000743 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18150923G>T , CM000679.2:g.18150923G>T GRCh38
NC_000017.10:g.18054237G>T , CM000679.1:g.18054237G>T GRCh37
NC_000017.9:g.17994962G>T NCBI36
NG_011634.1:g.47218G>T
NG_011634.2:g.47218G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.7473+10G>T MANE Select ENSP00000495481.1:n.7473+10G>T
ENST00000205890.9:c.7473+10G>T ENSP00000205890.5:n.7473+10G>T
ENST00000615845.4:c.7473+10G>T ENSP00000481642.1:n.7473+10G>T
NM_016239.3:c.7473+10G>T NP_057323.3:n.7473+10G>T
XM_011523921.1:c.7467+10G>T XP_011522223.1:n.7467+10G>T
XR_934293.1:n.434+680C>A
XR_934294.1:n.434+680C>A
XR_934295.1:n.253+680C>A
XM_017024714.2:c.7413+10G>T XP_016880203.1:n.7413+10G>T
XM_017024715.2:c.7476+10G>T XP_016880204.1:n.7476+10G>T
XR_934293.2:n.377+680C>A
XR_934294.2:n.377+680C>A
NM_016239.4:c.7473+10G>T MANE Select NP_057323.3:n.7473+10G>T
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