Canonical Allele Identifier: CA368542765
Gene: ACTL6B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646828G>C , CM000669.2:g.100646828G>C GRCh38
NC_000007.13:g.100244451G>C , CM000669.1:g.100244451G>C GRCh37
NC_000007.12:g.100082387G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.940C>G MANE Select ENSP00000160382.5:p.Leu314Val
ENST00000160382.9:c.940C>G ENSP00000160382.5:p.Leu314Val
ENST00000487125.1:n.502C>G
NM_016188.4:c.940C>G NP_057272.1:p.Leu314Val
XR_927476.1:n.1047C>G
NR_134539.1:n.1047C>G
NM_016188.5:c.940C>G MANE Select NP_057272.1:p.Leu314Val
NR_134539.2:n.1034C>G