Canonical Allele Identifier: CA368542881
Gene: ACTL6B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646990A>G , CM000669.2:g.100646990A>G GRCh38
NC_000007.13:g.100244613A>G , CM000669.1:g.100244613A>G GRCh37
NC_000007.12:g.100082549A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.917T>C MANE Select ENSP00000160382.5:p.Phe306Ser
ENST00000160382.9:c.917T>C ENSP00000160382.5:p.Phe306Ser
ENST00000487125.1:n.479T>C
NM_016188.4:c.917T>C NP_057272.1:p.Phe306Ser
XR_927476.1:n.1024T>C
NR_134539.1:n.1024T>C
NM_016188.5:c.917T>C MANE Select NP_057272.1:p.Phe306Ser
NR_134539.2:n.1011T>C