Canonical Allele Identifier: CA2684112353
Gene: ACTL6B HGNC NCBI

Linked Data

gnomAD v4: 7-100646537-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646537G>A , CM000669.2:g.100646537G>A GRCh38
NC_000007.13:g.100244160G>A , CM000669.1:g.100244160G>A GRCh37
NC_000007.12:g.100082096G>A NCBI36
NG_007989.1:g.14C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1113+14C>T MANE Select ENSP00000160382.5:n.1113+14C>T
ENST00000160382.9:c.1113+14C>T ENSP00000160382.5:n.1113+14C>T
ENST00000487125.1:n.675+14C>T
NM_016188.4:c.1113+14C>T NP_057272.1:n.1113+14C>T
XR_927476.1:n.1220+14C>T
NR_134539.1:n.1220+14C>T
NM_016188.5:c.1113+14C>T MANE Select NP_057272.1:n.1113+14C>T
NR_134539.2:n.1207+14C>T
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