Canonical Allele Identifier: CA153785
Gene: MYH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 129654
ClinVar RCV Id: RCV000117666 RCV000339782 RCV000286876 RCV001573300
dbSNP Id: rs34088014
ExAC: 17:10542709 G / A
gnomAD v2: 17-10542709-G-A
gnomAD v3: 17-10639392-G-A
gnomAD v4: 17-10639392-G-A
MyVariant Identifiers: chr17:g.10542709G>A (hg19) chr17:g.10639392G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10639392G>A , CM000679.2:g.10639392G>A GRCh38
NC_000017.10:g.10542709G>A , CM000679.1:g.10542709G>A GRCh37
NC_000017.9:g.10483434G>A NCBI36
NG_011537.1:g.22907C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000583535.6:c.3008C>T MANE Select ENSP00000464317.1:p.Ala1003Val
ENST00000583535.5:c.3008C>T ENSP00000464317.1:p.Ala1003Val
NM_002470.3:c.3008C>T NP_002461.2:p.Ala1003Val
XM_011523870.1:c.3008C>T XP_011522172.1:p.Ala1003Val
XM_011523871.1:c.3008C>T XP_011522173.1:p.Ala1003Val
XM_011523872.1:c.3008C>T XP_011522174.1:p.Ala1003Val
XM_011523870.3:c.3008C>T XP_011522172.1:p.Ala1003Val
XM_011523871.2:c.3008C>T XP_011522173.1:p.Ala1003Val
NM_002470.4:c.3008C>T MANE Select NP_002461.2:p.Ala1003Val
Search 100 bp 5'
Search 100 bp 3'