Canonical Allele Identifier: CA398155737

Gene: MYH3

Linked Data

• ClinVar Variation Id: 2284345
• ClinVar RCV Id: RCV002836231
• MyVariant Identifiers: chr17:g.10542700T>C (hg19) ; chr17:g.10639383T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10639383T>C , CM000679.2:g.10639383T>C	GRCh38
NC_000017.10:g.10542700T>C , CM000679.1:g.10542700T>C	GRCh37
NC_000017.9:g.10483425T>C	NCBI36
NG_011537.1:g.22916A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583535.6:c.3017A>G MANE Select	ENSP00000464317.1:p.Gln1006Arg
ENST00000583535.5:c.3017A>G	ENSP00000464317.1:p.Gln1006Arg
NM_002470.3:c.3017A>G	NP_002461.2:p.Gln1006Arg
XM_011523870.1:c.3017A>G	XP_011522172.1:p.Gln1006Arg
XM_011523871.1:c.3017A>G	XP_011522173.1:p.Gln1006Arg
XM_011523872.1:c.3017A>G	XP_011522174.1:p.Gln1006Arg
XM_011523870.3:c.3017A>G	XP_011522172.1:p.Gln1006Arg
XM_011523871.2:c.3017A>G	XP_011522173.1:p.Gln1006Arg
NM_002470.4:c.3017A>G MANE Select	NP_002461.2:p.Gln1006Arg