Canonical Allele Identifier: CA368542309
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs1803826612
MyVariant Identifiers: chr7:g.100244247A>G (hg19) chr7:g.100646624A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646624A>G , CM000669.2:g.100646624A>G GRCh38
NC_000007.13:g.100244247A>G , CM000669.1:g.100244247A>G GRCh37
NC_000007.12:g.100082183A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1040T>C MANE Select ENSP00000160382.5:p.Val347Ala
ENST00000160382.9:c.1040T>C ENSP00000160382.5:p.Val347Ala
ENST00000487125.1:n.602T>C
NM_016188.4:c.1040T>C NP_057272.1:p.Val347Ala
XR_927476.1:n.1147T>C
NR_134539.1:n.1147T>C
NM_016188.5:c.1040T>C MANE Select NP_057272.1:p.Val347Ala
NR_134539.2:n.1134T>C
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