Canonical Allele Identifier: CA368542677
Gene: ACTL6B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646807C>T , CM000669.2:g.100646807C>T GRCh38
NC_000007.13:g.100244430C>T , CM000669.1:g.100244430C>T GRCh37
NC_000007.12:g.100082366C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.961G>A MANE Select ENSP00000160382.5:p.Gly321Ser
ENST00000160382.9:c.961G>A ENSP00000160382.5:p.Gly321Ser
ENST00000487125.1:n.523G>A
NM_016188.4:c.961G>A NP_057272.1:p.Gly321Ser
XR_927476.1:n.1068G>A
NR_134539.1:n.1068G>A
NM_016188.5:c.961G>A MANE Select NP_057272.1:p.Gly321Ser
NR_134539.2:n.1055G>A