Canonical Allele Identifier: CA368542929
Gene: ACTL6B HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.100244625G>T (hg19) chr7:g.100647002G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647002G>T , CM000669.2:g.100647002G>T GRCh38
NC_000007.13:g.100244625G>T , CM000669.1:g.100244625G>T GRCh37
NC_000007.12:g.100082561G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.905C>A MANE Select ENSP00000160382.5:p.Pro302His
ENST00000160382.9:c.905C>A ENSP00000160382.5:p.Pro302His
ENST00000487125.1:n.467C>A
NM_016188.4:c.905C>A NP_057272.1:p.Pro302His
XR_927476.1:n.1012C>A
NR_134539.1:n.1012C>A
NM_016188.5:c.905C>A MANE Select NP_057272.1:p.Pro302His
NR_134539.2:n.999C>A
Search 100 bp 5'
Search 100 bp 3'