Canonical Allele Identifier: CA8392699

Gene: MYH3

Linked Data

• dbSNP Id: rs757597714
• ExAC: 17:10543127 A / G
• gnomAD v2: 17-10543127-A-G
• gnomAD v4: 17-10639810-A-G
• MyVariant Identifiers: chr17:g.10543127A>G (hg19) ; chr17:g.10639810A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10639810A>G , CM000679.2:g.10639810A>G	GRCh38
NC_000017.10:g.10543127A>G , CM000679.1:g.10543127A>G	GRCh37
NC_000017.9:g.10483852A>G	NCBI36
NG_011537.1:g.22489T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583535.6:c.2683-8T>C MANE Select	ENSP00000464317.1:n.2683-8T>C
ENST00000583535.5:c.2683-8T>C	ENSP00000464317.1:n.2683-8T>C
NM_002470.3:c.2683-8T>C	NP_002461.2:n.2683-8T>C
XM_011523870.1:c.2683-8T>C	XP_011522172.1:n.2683-8T>C
XM_011523871.1:c.2683-8T>C	XP_011522173.1:n.2683-8T>C
XM_011523872.1:c.2683-8T>C	XP_011522174.1:n.2683-8T>C
XM_011523870.3:c.2683-8T>C	XP_011522172.1:n.2683-8T>C
XM_011523871.2:c.2683-8T>C	XP_011522173.1:n.2683-8T>C
NM_002470.4:c.2683-8T>C MANE Select	NP_002461.2:n.2683-8T>C