Canonical Allele Identifier: CA368542913
Gene: ACTL6B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646998C>A , CM000669.2:g.100646998C>A GRCh38
NC_000007.13:g.100244621C>A , CM000669.1:g.100244621C>A GRCh37
NC_000007.12:g.100082557C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.909G>T MANE Select ENSP00000160382.5:p.Glu303Asp
ENST00000160382.9:c.909G>T ENSP00000160382.5:p.Glu303Asp
ENST00000487125.1:n.471G>T
NM_016188.4:c.909G>T NP_057272.1:p.Glu303Asp
XR_927476.1:n.1016G>T
NR_134539.1:n.1016G>T
NM_016188.5:c.909G>T MANE Select NP_057272.1:p.Glu303Asp
NR_134539.2:n.1003G>T