Canonical Allele Identifier: CA8393364

Gene: MYH3

Linked Data

• ClinVar Variation Id: 321773
• ClinVar RCV Id: RCV000303165 ; RCV000408004 ; RCV000791001 ; RCV002522912
• dbSNP Id: rs199513213
• ExAC: 17:10555837 G / C
• gnomAD v2: 17-10555837-G-C
• gnomAD v3: 17-10652520-G-C
• gnomAD v4: 17-10652520-G-C
• MyVariant Identifiers: chr17:g.10555837G>C (hg19) ; chr17:g.10652520G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10652520G>C , CM000679.2:g.10652520G>C	GRCh38
NC_000017.10:g.10555837G>C , CM000679.1:g.10555837G>C	GRCh37
NC_000017.9:g.10496562G>C	NCBI36
NG_011537.1:g.9779C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583535.6:c.248C>G MANE Select	ENSP00000464317.1:p.Pro83Arg
ENST00000582580.1:n.336C>G
ENST00000583535.5:c.248C>G	ENSP00000464317.1:p.Pro83Arg
NM_002470.3:c.248C>G	NP_002461.2:p.Pro83Arg
XM_011523870.1:c.248C>G	XP_011522172.1:p.Pro83Arg
XM_011523871.1:c.248C>G	XP_011522173.1:p.Pro83Arg
XM_011523872.1:c.248C>G	XP_011522174.1:p.Pro83Arg
XM_011523870.3:c.248C>G	XP_011522172.1:p.Pro83Arg
XM_011523871.2:c.248C>G	XP_011522173.1:p.Pro83Arg
NM_002470.4:c.248C>G MANE Select	NP_002461.2:p.Pro83Arg