Canonical Allele Identifier: CA2678434093
Gene: LHFPL5 HGNC NCBI

Linked Data

gnomAD v4: 6-35823510-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35823510C>A , CM000668.2:g.35823510C>A GRCh38
NC_000006.11:g.35791287C>A , CM000668.1:g.35791287C>A GRCh37
NC_000006.10:g.35899265C>A NCBI36
NG_012184.1:g.23217C>A
NG_012184.2:g.23217C>A
NG_012184.3:g.31305C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.*545C>A MANE Select ENSP00000353346.1:n.*545C>A
ENST00000496656.2:n.578+3690C>A
ENST00000651132.1:c.*545C>A ENSP00000498322.1:n.*545C>A
ENST00000651676.1:c.*16+4047C>A ENSP00000498699.1:n.*16+4047C>A
ENST00000651994.1:c.*625C>A ENSP00000498310.1:n.*625C>A
ENST00000652718.1:c.508+4047C>A ENSP00000498866.1:n.508+4047C>A
ENST00000360215.2:c.*545C>A ENSP00000353346.1:n.*545C>A
ENST00000496656.1:n.812+3690C>A
NM_182548.3:c.*545C>A NP_872354.1:n.*545C>A
NM_182548.4:c.*545C>A MANE Select NP_872354.1:n.*545C>A
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