Canonical Allele Identifier: CA368542263
Gene: ACTL6B HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.100244223T>C (hg19) chr7:g.100646600T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646600T>C , CM000669.2:g.100646600T>C GRCh38
NC_000007.13:g.100244223T>C , CM000669.1:g.100244223T>C GRCh37
NC_000007.12:g.100082159T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1064A>G MANE Select ENSP00000160382.5:p.Gln355Arg
ENST00000160382.9:c.1064A>G ENSP00000160382.5:p.Gln355Arg
ENST00000487125.1:n.626A>G
NM_016188.4:c.1064A>G NP_057272.1:p.Gln355Arg
XR_927476.1:n.1171A>G
NR_134539.1:n.1171A>G
NM_016188.5:c.1064A>G MANE Select NP_057272.1:p.Gln355Arg
NR_134539.2:n.1158A>G
Search 100 bp 5'
Search 100 bp 3'