Canonical Allele Identifier: CA2777155570
Gene: ACTL6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647184T>A , CM000669.2:g.100647184T>A GRCh38
NC_000007.13:g.100244807T>A , CM000669.1:g.100244807T>A GRCh37
NC_000007.12:g.100082743T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.821+39A>T MANE Select ENSP00000160382.5:n.821+39A>T
ENST00000160382.9:c.821+39A>T ENSP00000160382.5:n.821+39A>T
ENST00000487125.1:n.357+39A>T
NM_016188.4:c.821+39A>T NP_057272.1:n.821+39A>T
XR_927476.1:n.928+39A>T
NR_134539.1:n.928+39A>T
NM_016188.5:c.821+39A>T MANE Select NP_057272.1:n.821+39A>T
NR_134539.2:n.915+39A>T