Canonical Allele Identifier: CA368542106
Gene: ACTL6B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646560C>A , CM000669.2:g.100646560C>A GRCh38
NC_000007.13:g.100244183C>A , CM000669.1:g.100244183C>A GRCh37
NC_000007.12:g.100082119C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1104G>T MANE Select ENSP00000160382.5:p.Lys368Asn
ENST00000160382.9:c.1104G>T ENSP00000160382.5:p.Lys368Asn
ENST00000487125.1:n.666G>T
NM_016188.4:c.1104G>T NP_057272.1:p.Lys368Asn
XR_927476.1:n.1211G>T
NR_134539.1:n.1211G>T
NM_016188.5:c.1104G>T MANE Select NP_057272.1:p.Lys368Asn
NR_134539.2:n.1198G>T