Canonical Allele Identifier: CA2684112973
Gene: ACTL6B HGNC NCBI

Linked Data

gnomAD v4: 7-100646911-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646911C>G , CM000669.2:g.100646911C>G GRCh38
NC_000007.13:g.100244534C>G , CM000669.1:g.100244534C>G GRCh37
NC_000007.12:g.100082470C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.936+60G>C MANE Select ENSP00000160382.5:n.936+60G>C
ENST00000160382.9:c.936+60G>C ENSP00000160382.5:n.936+60G>C
ENST00000487125.1:n.498+60G>C
NM_016188.4:c.936+60G>C NP_057272.1:n.936+60G>C
XR_927476.1:n.1043+60G>C
NR_134539.1:n.1043+60G>C
NM_016188.5:c.936+60G>C MANE Select NP_057272.1:n.936+60G>C
NR_134539.2:n.1030+60G>C
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