Canonical Allele Identifier: CA456753465
Gene: ACTL6B HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.100244881G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647258G>C , CM000669.2:g.100647258G>C GRCh38
NC_000007.13:g.100244881G>C , CM000669.1:g.100244881G>C GRCh37
NC_000007.12:g.100082817G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.786C>G MANE Select ENSP00000160382.5:p.Ser262=
ENST00000160382.9:c.786C>G ENSP00000160382.5:p.Ser262=
ENST00000487125.1:n.322C>G
NM_016188.4:c.786C>G NP_057272.1:p.Ser262=
XR_927476.1:n.893C>G
NR_134539.1:n.893C>G
NM_016188.5:c.786C>G MANE Select NP_057272.1:p.Ser262=
NR_134539.2:n.880C>G