Canonical Allele Identifier: CA368542989
Gene: ACTL6B HGNC NCBI

Linked Data

gnomAD v3: 7-100647017-T-C
gnomAD v4: 7-100647017-T-C
MyVariant Identifiers: chr7:g.100244640T>C (hg19) chr7:g.100647017T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647017T>C , CM000669.2:g.100647017T>C GRCh38
NC_000007.13:g.100244640T>C , CM000669.1:g.100244640T>C GRCh37
NC_000007.12:g.100082576T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000160382.10:c.890A>G MANE Select ENSP00000160382.5:p.Glu297Gly
ENST00000160382.9:c.890A>G ENSP00000160382.5:p.Glu297Gly
ENST00000487125.1:n.452A>G
NM_016188.4:c.890A>G NP_057272.1:p.Glu297Gly
XR_927476.1:n.997A>G
NR_134539.1:n.997A>G
NM_016188.5:c.890A>G MANE Select NP_057272.1:p.Glu297Gly
NR_134539.2:n.984A>G
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