Canonical Allele Identifier: CA368543308
Gene: ACTL6B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647077G>A , CM000669.2:g.100647077G>A GRCh38
NC_000007.13:g.100244700G>A , CM000669.1:g.100244700G>A GRCh37
NC_000007.12:g.100082636G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.830C>T MANE Select ENSP00000160382.5:p.Ala277Val
ENST00000160382.9:c.830C>T ENSP00000160382.5:p.Ala277Val
ENST00000487125.1:n.392C>T
NM_016188.4:c.830C>T NP_057272.1:p.Ala277Val
XR_927476.1:n.937C>T
NR_134539.1:n.937C>T
NM_016188.5:c.830C>T MANE Select NP_057272.1:p.Ala277Val
NR_134539.2:n.924C>T