Canonical Allele Identifier: CA8392664
Gene: MYH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 258675
ClinVar RCV Id: RCV000252434 RCV000269877 RCV000368989 RCV000875409
dbSNP Id: rs144338240
ExAC: 17:10542919 G / T
gnomAD v2: 17-10542919-G-T
gnomAD v3: 17-10639602-G-T
gnomAD v4: 17-10639602-G-T
MyVariant Identifiers: chr17:g.10542919G>T (hg19) chr17:g.10639602G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10639602G>T , CM000679.2:g.10639602G>T GRCh38
NC_000017.10:g.10542919G>T , CM000679.1:g.10542919G>T GRCh37
NC_000017.9:g.10483644G>T NCBI36
NG_011537.1:g.22697C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000583535.6:c.2883C>A MANE Select ENSP00000464317.1:p.Thr961=
ENST00000583535.5:c.2883C>A ENSP00000464317.1:p.Thr961=
NM_002470.3:c.2883C>A NP_002461.2:p.Thr961=
XM_011523870.1:c.2883C>A XP_011522172.1:p.Thr961=
XM_011523871.1:c.2883C>A XP_011522173.1:p.Thr961=
XM_011523872.1:c.2883C>A XP_011522174.1:p.Thr961=
XM_011523870.3:c.2883C>A XP_011522172.1:p.Thr961=
XM_011523871.2:c.2883C>A XP_011522173.1:p.Thr961=
NM_002470.4:c.2883C>A MANE Select NP_002461.2:p.Thr961=
Search 100 bp 5'
Search 100 bp 3'