Canonical Allele Identifier: CA368542898
Gene: ACTL6B HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.100244617G>C (hg19) chr7:g.100646994G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646994G>C , CM000669.2:g.100646994G>C GRCh38
NC_000007.13:g.100244617G>C , CM000669.1:g.100244617G>C GRCh37
NC_000007.12:g.100082553G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.913C>G MANE Select ENSP00000160382.5:p.Leu305Val
ENST00000160382.9:c.913C>G ENSP00000160382.5:p.Leu305Val
ENST00000487125.1:n.475C>G
NM_016188.4:c.913C>G NP_057272.1:p.Leu305Val
XR_927476.1:n.1020C>G
NR_134539.1:n.1020C>G
NM_016188.5:c.913C>G MANE Select NP_057272.1:p.Leu305Val
NR_134539.2:n.1007C>G
Search 100 bp 5'
Search 100 bp 3'