Canonical Allele Identifier: CA368542774
Gene: ACTL6B HGNC NCBI

Linked Data

gnomAD v4: 7-100646831-C-A
MyVariant Identifiers: chr7:g.100244454C>A (hg19) chr7:g.100646831C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646831C>A , CM000669.2:g.100646831C>A GRCh38
NC_000007.13:g.100244454C>A , CM000669.1:g.100244454C>A GRCh37
NC_000007.12:g.100082390C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.937G>T MANE Select ENSP00000160382.5:p.Gly313Cys
ENST00000160382.9:c.937G>T ENSP00000160382.5:p.Gly313Cys
ENST00000487125.1:n.499G>T
NM_016188.4:c.937G>T NP_057272.1:p.Gly313Cys
XR_927476.1:n.1044G>T
NR_134539.1:n.1044G>T
NM_016188.5:c.937G>T MANE Select NP_057272.1:p.Gly313Cys
NR_134539.2:n.1031G>T
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