Canonical Allele Identifier: CA8424587
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 1180762
ClinVar RCV Id: RCV001814491 RCV002300545
dbSNP Id: rs375805896
ExAC: 17:18049348 C / T
gnomAD v2: 17-18049348-C-T
gnomAD v3: 17-18146034-C-T
gnomAD v4: 17-18146034-C-T
MyVariant Identifiers: chr17:g.18049348C>T (hg19) chr17:g.18146034C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146034C>T , CM000679.2:g.18146034C>T GRCh38
NC_000017.10:g.18049348C>T , CM000679.1:g.18049348C>T GRCh37
NC_000017.9:g.17990073C>T NCBI36
NG_011634.1:g.42329C>T
NG_011634.2:g.42329C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6436C>T MANE Select ENSP00000495481.1:p.Arg2146Trp
ENST00000205890.9:c.6436C>T ENSP00000205890.5:p.Arg2146Trp
ENST00000578999.1:n.21C>T
ENST00000615845.4:c.6436C>T ENSP00000481642.1:p.Arg2146Trp
NM_016239.3:c.6436C>T NP_057323.3:p.Arg2146Trp
XM_011523917.1:c.6376C>T XP_011522219.1:p.Arg2126Trp
XM_011523918.1:c.6342+34C>T XP_011522220.1:n.6342+34C>T
XM_011523921.1:c.6430C>T XP_011522223.1:p.Arg2144Trp
XR_934037.1:n.7035C>T
XR_934038.1:n.7035C>T
XM_011523918.2:c.6342+34C>T XP_011522220.1:n.6342+34C>T
XM_017024714.2:c.6376C>T XP_016880203.1:p.Arg2126Trp
XM_017024715.2:c.6439C>T XP_016880204.1:p.Arg2147Trp
XM_024450781.1:c.6213+1442C>T XP_024306549.1:n.6213+1442C>T
NM_016239.4:c.6436C>T MANE Select NP_057323.3:p.Arg2146Trp
Search 100 bp 5'
Search 100 bp 3'