Canonical Allele Identifier: CA8391890
Gene: MYH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 321713
ClinVar RCV Id: RCV000305684 RCV000360472 RCV002056549
dbSNP Id: rs376208076
ExAC: 17:10533398 G / A
gnomAD v2: 17-10533398-G-A
gnomAD v3: 17-10630081-G-A
gnomAD v4: 17-10630081-G-A
MyVariant Identifiers: chr17:g.10533398G>A (hg19) chr17:g.10630081G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10630081G>A , CM000679.2:g.10630081G>A GRCh38
NC_000017.10:g.10533398G>A , CM000679.1:g.10533398G>A GRCh37
NC_000017.9:g.10474123G>A NCBI36
NG_011537.1:g.32218C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000583535.6:c.5562+11C>T MANE Select ENSP00000464317.1:n.5562+11C>T
ENST00000583535.5:c.5562+11C>T ENSP00000464317.1:n.5562+11C>T
NM_002470.3:c.5562+11C>T NP_002461.2:n.5562+11C>T
XM_011523870.1:c.5562+11C>T XP_011522172.1:n.5562+11C>T
XM_011523871.1:c.5562+11C>T XP_011522173.1:n.5562+11C>T
XM_011523870.3:c.5562+11C>T XP_011522172.1:n.5562+11C>T
XM_011523871.2:c.5562+11C>T XP_011522173.1:n.5562+11C>T
NM_002470.4:c.5562+11C>T MANE Select NP_002461.2:n.5562+11C>T
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