Canonical Allele Identifier: CA2684112657
Gene: ACTL6B HGNC NCBI

Linked Data

gnomAD v4: 7-100646713-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646713G>T , CM000669.2:g.100646713G>T GRCh38
NC_000007.13:g.100244336G>T , CM000669.1:g.100244336G>T GRCh37
NC_000007.12:g.100082272G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1017+38C>A MANE Select ENSP00000160382.5:n.1017+38C>A
ENST00000160382.9:c.1017+38C>A ENSP00000160382.5:n.1017+38C>A
ENST00000487125.1:n.579+38C>A
NM_016188.4:c.1017+38C>A NP_057272.1:n.1017+38C>A
XR_927476.1:n.1124+38C>A
NR_134539.1:n.1124+38C>A
NM_016188.5:c.1017+38C>A MANE Select NP_057272.1:n.1017+38C>A
NR_134539.2:n.1111+38C>A
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