Canonical Allele Identifier: CA368543587
Gene: ACTL6B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647242C>G , CM000669.2:g.100647242C>G GRCh38
NC_000007.13:g.100244865C>G , CM000669.1:g.100244865C>G GRCh37
NC_000007.12:g.100082801C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.802G>C MANE Select ENSP00000160382.5:p.Asp268His
ENST00000160382.9:c.802G>C ENSP00000160382.5:p.Asp268His
ENST00000487125.1:n.338G>C
NM_016188.4:c.802G>C NP_057272.1:p.Asp268His
XR_927476.1:n.909G>C
NR_134539.1:n.909G>C
NM_016188.5:c.802G>C MANE Select NP_057272.1:p.Asp268His
NR_134539.2:n.896G>C