Canonical Allele Identifier: CA287786385

Gene: MYH3

Linked Data

• dbSNP Id: rs553747754
• gnomAD v2: 17-10543258-T-A
• gnomAD v3: 17-10639941-T-A
• gnomAD v4: 17-10639941-T-A
• MyVariant Identifiers: chr17:g.10543258T>A (hg19) ; chr17:g.10639941T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10639941T>A , CM000679.2:g.10639941T>A	GRCh38
NC_000017.10:g.10543258T>A , CM000679.1:g.10543258T>A	GRCh37
NC_000017.9:g.10483983T>A	NCBI36
NG_011537.1:g.22358A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583535.6:c.2682+55A>T MANE Select	ENSP00000464317.1:n.2682+55A>T
ENST00000583535.5:c.2682+55A>T	ENSP00000464317.1:n.2682+55A>T
NM_002470.3:c.2682+55A>T	NP_002461.2:n.2682+55A>T
XM_011523870.1:c.2682+55A>T	XP_011522172.1:n.2682+55A>T
XM_011523871.1:c.2682+55A>T	XP_011522173.1:n.2682+55A>T
XM_011523872.1:c.2682+55A>T	XP_011522174.1:n.2682+55A>T
XM_011523870.3:c.2682+55A>T	XP_011522172.1:n.2682+55A>T
XM_011523871.2:c.2682+55A>T	XP_011522173.1:n.2682+55A>T
NM_002470.4:c.2682+55A>T MANE Select	NP_002461.2:n.2682+55A>T