Canonical Allele Identifier: CA2247317247
Gene: MYH3 HGNC NCBI

Linked Data

dbSNP Id: rs2074253358
gnomAD v3: 17-10639958-A-G
gnomAD v4: 17-10639958-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10639958A>G , CM000679.2:g.10639958A>G GRCh38
NC_000017.10:g.10543275A>G , CM000679.1:g.10543275A>G GRCh37
NC_000017.9:g.10484000A>G NCBI36
NG_011537.1:g.22341T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000583535.6:c.2682+38T>C MANE Select ENSP00000464317.1:n.2682+38T>C
ENST00000583535.5:c.2682+38T>C ENSP00000464317.1:n.2682+38T>C
NM_002470.3:c.2682+38T>C NP_002461.2:n.2682+38T>C
XM_011523870.1:c.2682+38T>C XP_011522172.1:n.2682+38T>C
XM_011523871.1:c.2682+38T>C XP_011522173.1:n.2682+38T>C
XM_011523872.1:c.2682+38T>C XP_011522174.1:n.2682+38T>C
XM_011523870.3:c.2682+38T>C XP_011522172.1:n.2682+38T>C
XM_011523871.2:c.2682+38T>C XP_011522173.1:n.2682+38T>C
NM_002470.4:c.2682+38T>C MANE Select NP_002461.2:n.2682+38T>C
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