Canonical Allele Identifier: CA4387045
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs372754130
ExAC: 7:100244169 C / T
gnomAD v2: 7-100244169-C-T
gnomAD v3: 7-100646546-C-T
gnomAD v4: 7-100646546-C-T
MyVariant Identifiers: chr7:g.100244169C>T (hg19) chr7:g.100646546C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646546C>T , CM000669.2:g.100646546C>T GRCh38
NC_000007.13:g.100244169C>T , CM000669.1:g.100244169C>T GRCh37
NC_000007.12:g.100082105C>T NCBI36
NG_007989.1:g.5G>A

Transcript Alleles

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