Canonical Allele Identifier: CA4387173
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs761132428
ExAC: 7:100245050 C / A
gnomAD v2: 7-100245050-C-A
gnomAD v4: 7-100647427-C-A
MyVariant Identifiers: chr7:g.100245050C>A (hg19) chr7:g.100647427C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647427C>A , CM000669.2:g.100647427C>A GRCh38
NC_000007.13:g.100245050C>A , CM000669.1:g.100245050C>A GRCh37
NC_000007.12:g.100082986C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.759+17G>T MANE Select ENSP00000160382.5:n.759+17G>T
ENST00000160382.9:c.759+17G>T ENSP00000160382.5:n.759+17G>T
ENST00000487125.1:n.295+17G>T
NM_016188.4:c.759+17G>T NP_057272.1:n.759+17G>T
XR_927476.1:n.866+17G>T
NR_134539.1:n.866+17G>T
NM_016188.5:c.759+17G>T MANE Select NP_057272.1:n.759+17G>T
NR_134539.2:n.853+17G>T
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