Canonical Allele Identifier: CA153789
Gene: MYH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 129656
ClinVar RCV Id: RCV001636666 RCV001778724 RCV001778725 RCV001778726 RCV002498518
dbSNP Id: rs2285475
ExAC: 17:10542471 T / G
gnomAD v2: 17-10542471-T-G
gnomAD v3: 17-10639154-T-G
gnomAD v4: 17-10639154-T-G
MyVariant Identifiers: chr17:g.10542471T>G (hg19) chr17:g.10639154T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10639154T>G , CM000679.2:g.10639154T>G GRCh38
NC_000017.10:g.10542471T>G , CM000679.1:g.10542471T>G GRCh37
NC_000017.9:g.10483196T>G NCBI36
NG_011537.1:g.23145A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000583535.6:c.3138A>C MANE Select ENSP00000464317.1:p.Arg1046=
ENST00000583535.5:c.3138A>C ENSP00000464317.1:p.Arg1046=
NM_002470.3:c.3138A>C NP_002461.2:p.Arg1046=
XM_011523870.1:c.3138A>C XP_011522172.1:p.Arg1046=
XM_011523871.1:c.3138A>C XP_011522173.1:p.Arg1046=
XM_011523872.1:c.3138A>C XP_011522174.1:p.Arg1046=
XM_011523870.3:c.3138A>C XP_011522172.1:p.Arg1046=
XM_011523871.2:c.3138A>C XP_011522173.1:p.Arg1046=
NM_002470.4:c.3138A>C MANE Select NP_002461.2:p.Arg1046=
Search 100 bp 5'
Search 100 bp 3'