Canonical Allele Identifier: CA368542124
Gene: ACTL6B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646564T>A , CM000669.2:g.100646564T>A GRCh38
NC_000007.13:g.100244187T>A , CM000669.1:g.100244187T>A GRCh37
NC_000007.12:g.100082123T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1100A>T MANE Select ENSP00000160382.5:p.Gln367Leu
ENST00000160382.9:c.1100A>T ENSP00000160382.5:p.Gln367Leu
ENST00000487125.1:n.662A>T
NM_016188.4:c.1100A>T NP_057272.1:p.Gln367Leu
XR_927476.1:n.1207A>T
NR_134539.1:n.1207A>T
NM_016188.5:c.1100A>T MANE Select NP_057272.1:p.Gln367Leu
NR_134539.2:n.1194A>T