Canonical Allele Identifier: CA368542073
Gene: ACTL6B HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.100244173C>T (hg19) chr7:g.100646550C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646550C>T , CM000669.2:g.100646550C>T GRCh38
NC_000007.13:g.100244173C>T , CM000669.1:g.100244173C>T GRCh37
NC_000007.12:g.100082109C>T NCBI36
NG_007989.1:g.1G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1113+1G>A MANE Select ENSP00000160382.5:n.1113+1G>A
ENST00000160382.9:c.1113+1G>A ENSP00000160382.5:n.1113+1G>A
ENST00000487125.1:n.675+1G>A
NM_016188.4:c.1113+1G>A NP_057272.1:n.1113+1G>A
XR_927476.1:n.1220+1G>A
NR_134539.1:n.1220+1G>A
NM_016188.5:c.1113+1G>A MANE Select NP_057272.1:n.1113+1G>A
NR_134539.2:n.1207+1G>A
Search 100 bp 5'
Search 100 bp 3'