Canonical Allele Identifier: CA368543534
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs1464117278
gnomAD v2: 7-100244861-G-A
gnomAD v4: 7-100647238-G-A
MyVariant Identifiers: chr7:g.100244861G>A (hg19) chr7:g.100647238G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647238G>A , CM000669.2:g.100647238G>A GRCh38
NC_000007.13:g.100244861G>A , CM000669.1:g.100244861G>A GRCh37
NC_000007.12:g.100082797G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.806C>T MANE Select ENSP00000160382.5:p.Ser269Phe
ENST00000160382.9:c.806C>T ENSP00000160382.5:p.Ser269Phe
ENST00000487125.1:n.342C>T
NM_016188.4:c.806C>T NP_057272.1:p.Ser269Phe
XR_927476.1:n.913C>T
NR_134539.1:n.913C>T
NM_016188.5:c.806C>T MANE Select NP_057272.1:p.Ser269Phe
NR_134539.2:n.900C>T
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