Canonical Allele Identifier: CA163294136
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs368995777
gnomAD v2: 7-100244560-A-G
gnomAD v3: 7-100646937-A-G
gnomAD v4: 7-100646937-A-G
MyVariant Identifiers: chr7:g.100244560A>G (hg19) chr7:g.100646937A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646937A>G , CM000669.2:g.100646937A>G GRCh38
NC_000007.13:g.100244560A>G , CM000669.1:g.100244560A>G GRCh37
NC_000007.12:g.100082496A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000160382.10:c.936+34T>C MANE Select ENSP00000160382.5:n.936+34T>C
ENST00000160382.9:c.936+34T>C ENSP00000160382.5:n.936+34T>C
ENST00000487125.1:n.498+34T>C
NM_016188.4:c.936+34T>C NP_057272.1:n.936+34T>C
XR_927476.1:n.1043+34T>C
NR_134539.1:n.1043+34T>C
NM_016188.5:c.936+34T>C MANE Select NP_057272.1:n.936+34T>C
NR_134539.2:n.1030+34T>C
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