Canonical Allele Identifier: CA8422996
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 505185
ClinVar RCV Id: RCV000603268 RCV000762982
dbSNP Id: rs759523751
ExAC: 17:18023110 C / G
gnomAD v2: 17-18023110-C-G
gnomAD v3: 17-18119796-C-G
gnomAD v4: 17-18119796-C-G
MyVariant Identifiers: chr17:g.18023110C>G (hg19) chr17:g.18119796C>G (hg38)
ERepo: CA8422996/MONDO:0019497/005
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18119796C>G , CM000679.2:g.18119796C>G GRCh38
NC_000017.10:g.18023110C>G , CM000679.1:g.18023110C>G GRCh37
NC_000017.9:g.17963835C>G NCBI36
NG_011634.1:g.16091C>G
NG_011634.2:g.16091C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647165.2:c.996C>G MANE Select ENSP00000495481.1:p.Tyr332Ter
ENST00000205890.9:c.996C>G ENSP00000205890.5:p.Tyr332Ter
ENST00000583079.1:n.629C>G
ENST00000615845.4:c.996C>G ENSP00000481642.1:p.Tyr332Ter
NM_016239.3:c.996C>G NP_057323.3:p.Tyr332Ter
XM_011523917.1:c.996C>G XP_011522219.1:p.Tyr332Ter
XM_011523918.1:c.996C>G XP_011522220.1:p.Tyr332Ter
XM_011523919.1:c.996C>G XP_011522221.1:p.Tyr332Ter
XM_011523920.1:c.996C>G XP_011522222.1:p.Tyr332Ter
XM_011523921.1:c.996C>G XP_011522223.1:p.Tyr332Ter
XR_934037.1:n.1655C>G
XR_934038.1:n.1655C>G
XR_934039.1:n.1655C>G
XM_011523918.2:c.996C>G XP_011522220.1:p.Tyr332Ter
XM_017024714.2:c.996C>G XP_016880203.1:p.Tyr332Ter
XM_017024715.2:c.996C>G XP_016880204.1:p.Tyr332Ter
XM_024450780.1:c.996C>G XP_024306548.1:p.Tyr332Ter
XM_024450781.1:c.996C>G XP_024306549.1:p.Tyr332Ter
XM_024450782.1:c.996C>G XP_024306550.1:p.Tyr332Ter
XR_934039.2:n.1694C>G
NM_016239.4:c.996C>G MANE Select NP_057323.3:p.Tyr332Ter
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