Canonical Allele Identifier: CA576714425
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs1442627261

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646858G>T , CM000669.2:g.100646858G>T GRCh38
NC_000007.13:g.100244481G>T , CM000669.1:g.100244481G>T GRCh37
NC_000007.12:g.100082417G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.937-27C>A MANE Select ENSP00000160382.5:n.937-27C>A
ENST00000160382.9:c.937-27C>A ENSP00000160382.5:n.937-27C>A
ENST00000487125.1:n.499-27C>A
NM_016188.4:c.937-27C>A NP_057272.1:n.937-27C>A
XR_927476.1:n.1044-27C>A
NR_134539.1:n.1044-27C>A
NM_016188.5:c.937-27C>A MANE Select NP_057272.1:n.937-27C>A
NR_134539.2:n.1031-27C>A