Canonical Allele Identifier: CA8393286

Gene: MYH3

Linked Data

• ClinVar Variation Id: 321771
• ClinVar RCV Id: RCV000314882 ; RCV000400955 ; RCV000874742 ; RCV004537811
• dbSNP Id: rs191837780
• ExAC: 17:10554922 C / T
• gnomAD v2: 17-10554922-C-T
• gnomAD v3: 17-10651605-C-T
• gnomAD v4: 17-10651605-C-T
• MyVariant Identifiers: chr17:g.10554922C>T (hg19) ; chr17:g.10651605C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10651605C>T , CM000679.2:g.10651605C>T	GRCh38
NC_000017.10:g.10554922C>T , CM000679.1:g.10554922C>T	GRCh37
NC_000017.9:g.10495647C>T	NCBI36
NG_011537.1:g.10694G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583535.6:c.412G>A MANE Select	ENSP00000464317.1:p.Glu138Lys
ENST00000579489.2:n.364G>A
ENST00000583535.5:c.412G>A	ENSP00000464317.1:p.Glu138Lys
NM_002470.3:c.412G>A	NP_002461.2:p.Glu138Lys
XM_011523870.1:c.412G>A	XP_011522172.1:p.Glu138Lys
XM_011523871.1:c.412G>A	XP_011522173.1:p.Glu138Lys
XM_011523872.1:c.412G>A	XP_011522174.1:p.Glu138Lys
XM_011523870.3:c.412G>A	XP_011522172.1:p.Glu138Lys
XM_011523871.2:c.412G>A	XP_011522173.1:p.Glu138Lys
NM_002470.4:c.412G>A MANE Select	NP_002461.2:p.Glu138Lys