Canonical Allele Identifier: CA8423856
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 1301925
ClinVar RCV Id: RCV002224993
dbSNP Id: rs772995303
ExAC: 17:18036540 G / T
gnomAD v2: 17-18036540-G-T
gnomAD v4: 17-18133226-G-T
MyVariant Identifiers: chr17:g.18036540G>T (hg19) chr17:g.18133226G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18133226G>T , CM000679.2:g.18133226G>T GRCh38
NC_000017.10:g.18036540G>T , CM000679.1:g.18036540G>T GRCh37
NC_000017.9:g.17977265G>T NCBI36
NG_011634.1:g.29521G>T
NG_011634.2:g.29521G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647165.2:c.4322G>T MANE Select ENSP00000495481.1:p.Gly1441Val
ENST00000205890.9:c.4322G>T ENSP00000205890.5:p.Gly1441Val
ENST00000615845.4:c.4322G>T ENSP00000481642.1:p.Gly1441Val
NM_016239.3:c.4322G>T NP_057323.3:p.Gly1441Val
XM_011523917.1:c.4316G>T XP_011522219.1:p.Gly1439Val
XM_011523918.1:c.4316G>T XP_011522220.1:p.Gly1439Val
XM_011523919.1:c.4316G>T XP_011522221.1:p.Gly1439Val
XM_011523920.1:c.4316G>T XP_011522222.1:p.Gly1439Val
XM_011523921.1:c.4316G>T XP_011522223.1:p.Gly1439Val
XR_934037.1:n.4975G>T
XR_934038.1:n.4975G>T
XR_934039.1:n.4975G>T
XM_011523918.2:c.4316G>T XP_011522220.1:p.Gly1439Val
XM_017024714.2:c.4316G>T XP_016880203.1:p.Gly1439Val
XM_017024715.2:c.4325G>T XP_016880204.1:p.Gly1442Val
XM_024450780.1:c.4316G>T XP_024306548.1:p.Gly1439Val
XM_024450781.1:c.4316G>T XP_024306549.1:p.Gly1439Val
XM_024450782.1:c.4316G>T XP_024306550.1:p.Gly1439Val
XR_934039.2:n.5014G>T
NM_016239.4:c.4322G>T MANE Select NP_057323.3:p.Gly1441Val
Search 100 bp 5'
Search 100 bp 3'