Canonical Allele Identifier: CA398606396
Gene: MYO15A HGNC NCBI

Linked Data

dbSNP Id: rs771838274
gnomAD v4: 17-18145894-C-G
MyVariant Identifiers: chr17:g.18049208C>G (hg19) chr17:g.18145894C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145894C>G , CM000679.2:g.18145894C>G GRCh38
NC_000017.10:g.18049208C>G , CM000679.1:g.18049208C>G GRCh37
NC_000017.9:g.17989933C>G NCBI36
NG_011634.1:g.42189C>G
NG_011634.2:g.42189C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6296C>G MANE Select ENSP00000495481.1:p.Pro2099Arg
ENST00000205890.9:c.6296C>G ENSP00000205890.5:p.Pro2099Arg
ENST00000615845.4:c.6296C>G ENSP00000481642.1:p.Pro2099Arg
NM_016239.3:c.6296C>G NP_057323.3:p.Pro2099Arg
XM_011523917.1:c.6236C>G XP_011522219.1:p.Pro2079Arg
XM_011523918.1:c.6236C>G XP_011522220.1:p.Pro2079Arg
XM_011523921.1:c.6290C>G XP_011522223.1:p.Pro2097Arg
XR_934037.1:n.6895C>G
XR_934038.1:n.6895C>G
XM_011523918.2:c.6236C>G XP_011522220.1:p.Pro2079Arg
XM_017024714.2:c.6236C>G XP_016880203.1:p.Pro2079Arg
XM_017024715.2:c.6299C>G XP_016880204.1:p.Pro2100Arg
XM_024450781.1:c.6213+1302C>G XP_024306549.1:n.6213+1302C>G
NM_016239.4:c.6296C>G MANE Select NP_057323.3:p.Pro2099Arg
Search 100 bp 5'
Search 100 bp 3'