Canonical Allele Identifier: CA2578963753
Gene: ACTL6B HGNC NCBI

Linked Data

gnomAD v4: 7-100646534-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646534C>T , CM000669.2:g.100646534C>T GRCh38
NC_000007.13:g.100244157C>T , CM000669.1:g.100244157C>T GRCh37
NC_000007.12:g.100082093C>T NCBI36
NG_007989.1:g.17G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1113+17G>A MANE Select ENSP00000160382.5:n.1113+17G>A
ENST00000160382.9:c.1113+17G>A ENSP00000160382.5:n.1113+17G>A
ENST00000487125.1:n.675+17G>A
NM_016188.4:c.1113+17G>A NP_057272.1:n.1113+17G>A
XR_927476.1:n.1220+17G>A
NR_134539.1:n.1220+17G>A
NM_016188.5:c.1113+17G>A MANE Select NP_057272.1:n.1113+17G>A
NR_134539.2:n.1207+17G>A
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