Canonical Allele Identifier: CA368543006
Gene: ACTL6B HGNC NCBI

Linked Data

gnomAD v4: 7-100647020-G-T
MyVariant Identifiers: chr7:g.100244643G>T (hg19) chr7:g.100647020G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647020G>T , CM000669.2:g.100647020G>T GRCh38
NC_000007.13:g.100244643G>T , CM000669.1:g.100244643G>T GRCh37
NC_000007.12:g.100082579G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000160382.10:c.887C>A MANE Select ENSP00000160382.5:p.Ala296Asp
ENST00000160382.9:c.887C>A ENSP00000160382.5:p.Ala296Asp
ENST00000487125.1:n.449C>A
NM_016188.4:c.887C>A NP_057272.1:p.Ala296Asp
XR_927476.1:n.994C>A
NR_134539.1:n.994C>A
NM_016188.5:c.887C>A MANE Select NP_057272.1:p.Ala296Asp
NR_134539.2:n.981C>A
Search 100 bp 5'
Search 100 bp 3'