Canonical Allele Identifier: CA368543844
Gene: ACTL6B HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.100244901T>A (hg19) chr7:g.100647278T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647278T>A , CM000669.2:g.100647278T>A GRCh38
NC_000007.13:g.100244901T>A , CM000669.1:g.100244901T>A GRCh37
NC_000007.12:g.100082837T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.766A>T MANE Select ENSP00000160382.5:p.Ile256Phe
ENST00000160382.9:c.766A>T ENSP00000160382.5:p.Ile256Phe
ENST00000487125.1:n.302A>T
NM_016188.4:c.766A>T NP_057272.1:p.Ile256Phe
XR_927476.1:n.873A>T
NR_134539.1:n.873A>T
NM_016188.5:c.766A>T MANE Select NP_057272.1:p.Ile256Phe
NR_134539.2:n.860A>T
Search 100 bp 5'
Search 100 bp 3'