Canonical Allele Identifier: CA368543636
Gene: ACTL6B HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.100244874G>T (hg19) chr7:g.100647251G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647251G>T , CM000669.2:g.100647251G>T GRCh38
NC_000007.13:g.100244874G>T , CM000669.1:g.100244874G>T GRCh37
NC_000007.12:g.100082810G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.793C>A MANE Select ENSP00000160382.5:p.Gln265Lys
ENST00000160382.9:c.793C>A ENSP00000160382.5:p.Gln265Lys
ENST00000487125.1:n.329C>A
NM_016188.4:c.793C>A NP_057272.1:p.Gln265Lys
XR_927476.1:n.900C>A
NR_134539.1:n.900C>A
NM_016188.5:c.793C>A MANE Select NP_057272.1:p.Gln265Lys
NR_134539.2:n.887C>A
Search 100 bp 5'
Search 100 bp 3'