Canonical Allele Identifier: CA2684113471
Gene: ACTL6B HGNC NCBI

Linked Data

gnomAD v4: 7-100647358-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647358G>T , CM000669.2:g.100647358G>T GRCh38
NC_000007.13:g.100244981G>T , CM000669.1:g.100244981G>T GRCh37
NC_000007.12:g.100082917G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.760-74C>A MANE Select ENSP00000160382.5:n.760-74C>A
ENST00000160382.9:c.760-74C>A ENSP00000160382.5:n.760-74C>A
ENST00000487125.1:n.296-74C>A
NM_016188.4:c.760-74C>A NP_057272.1:n.760-74C>A
XR_927476.1:n.867-74C>A
NR_134539.1:n.867-74C>A
NM_016188.5:c.760-74C>A MANE Select NP_057272.1:n.760-74C>A
NR_134539.2:n.854-74C>A
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Search 100 bp 3'