Canonical Allele Identifier: CA2545478414
Gene: ACTL6B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646681A>T , CM000669.2:g.100646681A>T GRCh38
NC_000007.13:g.100244304A>T , CM000669.1:g.100244304A>T GRCh37
NC_000007.12:g.100082240A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1018-35T>A MANE Select ENSP00000160382.5:n.1018-35T>A
ENST00000160382.9:c.1018-35T>A ENSP00000160382.5:n.1018-35T>A
ENST00000487125.1:n.580-35T>A
NM_016188.4:c.1018-35T>A NP_057272.1:n.1018-35T>A
XR_927476.1:n.1125-35T>A
NR_134539.1:n.1125-35T>A
NM_016188.5:c.1018-35T>A MANE Select NP_057272.1:n.1018-35T>A
NR_134539.2:n.1112-35T>A
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