Canonical Allele Identifier: CA576714453
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs1389016244
gnomAD v2: 7-100244798-T-A
gnomAD v3: 7-100647175-T-A
gnomAD v4: 7-100647175-T-A
MyVariant Identifiers: chr7:g.100244798T>A (hg19) chr7:g.100647175T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647175T>A , CM000669.2:g.100647175T>A GRCh38
NC_000007.13:g.100244798T>A , CM000669.1:g.100244798T>A GRCh37
NC_000007.12:g.100082734T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.821+48A>T MANE Select ENSP00000160382.5:n.821+48A>T
ENST00000160382.9:c.821+48A>T ENSP00000160382.5:n.821+48A>T
ENST00000487125.1:n.357+48A>T
NM_016188.4:c.821+48A>T NP_057272.1:n.821+48A>T
XR_927476.1:n.928+48A>T
NR_134539.1:n.928+48A>T
NM_016188.5:c.821+48A>T MANE Select NP_057272.1:n.821+48A>T
NR_134539.2:n.915+48A>T
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