Canonical Allele Identifier: CA368542276
Gene: ACTL6B HGNC NCBI

Linked Data

gnomAD v4: 7-100646606-A-T
MyVariant Identifiers: chr7:g.100244229A>T (hg19) chr7:g.100646606A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646606A>T , CM000669.2:g.100646606A>T GRCh38
NC_000007.13:g.100244229A>T , CM000669.1:g.100244229A>T GRCh37
NC_000007.12:g.100082165A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1058T>A MANE Select ENSP00000160382.5:p.Leu353Gln
ENST00000160382.9:c.1058T>A ENSP00000160382.5:p.Leu353Gln
ENST00000487125.1:n.620T>A
NM_016188.4:c.1058T>A NP_057272.1:p.Leu353Gln
XR_927476.1:n.1165T>A
NR_134539.1:n.1165T>A
NM_016188.5:c.1058T>A MANE Select NP_057272.1:p.Leu353Gln
NR_134539.2:n.1152T>A
Search 100 bp 5'
Search 100 bp 3'