Canonical Allele Identifier: CA2523610496
Gene: LHFPL5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35823611G>A , CM000668.2:g.35823611G>A GRCh38
NC_000006.11:g.35791388G>A , CM000668.1:g.35791388G>A GRCh37
NC_000006.10:g.35899366G>A NCBI36
NG_012184.1:g.23318G>A
NG_012184.2:g.23318G>A
NG_012184.3:g.31406G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.*646G>A MANE Select ENSP00000353346.1:n.*646G>A
ENST00000496656.2:n.578+3791G>A
ENST00000651132.1:c.*646G>A ENSP00000498322.1:n.*646G>A
ENST00000651676.1:c.*16+4148G>A ENSP00000498699.1:n.*16+4148G>A
ENST00000651994.1:c.*726G>A ENSP00000498310.1:n.*726G>A
ENST00000652718.1:c.508+4148G>A ENSP00000498866.1:n.508+4148G>A
ENST00000360215.2:c.*646G>A ENSP00000353346.1:n.*646G>A
ENST00000496656.1:n.812+3791G>A
NM_182548.3:c.*646G>A NP_872354.1:n.*646G>A
NM_182548.4:c.*646G>A MANE Select NP_872354.1:n.*646G>A