Canonical Allele Identifier: CA368543247
Gene: ACTL6B HGNC NCBI

Linked Data

COSMIC: COSM395355

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647069G>T , CM000669.2:g.100647069G>T GRCh38
NC_000007.13:g.100244692G>T , CM000669.1:g.100244692G>T GRCh37
NC_000007.12:g.100082628G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.838C>A MANE Select ENSP00000160382.5:p.Pro280Thr
ENST00000160382.9:c.838C>A ENSP00000160382.5:p.Pro280Thr
ENST00000487125.1:n.400C>A
NM_016188.4:c.838C>A NP_057272.1:p.Pro280Thr
XR_927476.1:n.945C>A
NR_134539.1:n.945C>A
NM_016188.5:c.838C>A MANE Select NP_057272.1:p.Pro280Thr
NR_134539.2:n.932C>A