Canonical Allele Identifier: CA456753211
Gene: ACTL6B HGNC NCBI

Linked Data

gnomAD v4: 7-100647034-A-G
MyVariant Identifiers: chr7:g.100244657A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647034A>G , CM000669.2:g.100647034A>G GRCh38
NC_000007.13:g.100244657A>G , CM000669.1:g.100244657A>G GRCh37
NC_000007.12:g.100082593A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000160382.10:c.873T>C MANE Select ENSP00000160382.5:p.Asn291=
ENST00000160382.9:c.873T>C ENSP00000160382.5:p.Asn291=
ENST00000487125.1:n.435T>C
NM_016188.4:c.873T>C NP_057272.1:p.Asn291=
XR_927476.1:n.980T>C
NR_134539.1:n.980T>C
NM_016188.5:c.873T>C MANE Select NP_057272.1:p.Asn291=
NR_134539.2:n.967T>C
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