Canonical Allele Identifier: CA498430433
Gene: MYO15A HGNC NCBI

Linked Data

dbSNP Id: rs1222314481
gnomAD v2: 17-18049215-G-A
gnomAD v3: 17-18145901-G-A
gnomAD v4: 17-18145901-G-A
MyVariant Identifiers: chr17:g.18049215G>A (hg19) chr17:g.18145901G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145901G>A , CM000679.2:g.18145901G>A GRCh38
NC_000017.10:g.18049215G>A , CM000679.1:g.18049215G>A GRCh37
NC_000017.9:g.17989940G>A NCBI36
NG_011634.1:g.42196G>A
NG_011634.2:g.42196G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6303G>A MANE Select ENSP00000495481.1:p.Leu2101=
ENST00000205890.9:c.6303G>A ENSP00000205890.5:p.Leu2101=
ENST00000615845.4:c.6303G>A ENSP00000481642.1:p.Leu2101=
NM_016239.3:c.6303G>A NP_057323.3:p.Leu2101=
XM_011523917.1:c.6243G>A XP_011522219.1:p.Leu2081=
XM_011523918.1:c.6243G>A XP_011522220.1:p.Leu2081=
XM_011523921.1:c.6297G>A XP_011522223.1:p.Leu2099=
XR_934037.1:n.6902G>A
XR_934038.1:n.6902G>A
XM_011523918.2:c.6243G>A XP_011522220.1:p.Leu2081=
XM_017024714.2:c.6243G>A XP_016880203.1:p.Leu2081=
XM_017024715.2:c.6306G>A XP_016880204.1:p.Leu2102=
XM_024450781.1:c.6213+1309G>A XP_024306549.1:n.6213+1309G>A
NM_016239.4:c.6303G>A MANE Select NP_057323.3:p.Leu2101=
Search 100 bp 5'
Search 100 bp 3'