Canonical Allele Identifier: CA2520610114
Gene: LHFPL5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35823650G>A , CM000668.2:g.35823650G>A GRCh38
NC_000006.11:g.35791427G>A , CM000668.1:g.35791427G>A GRCh37
NC_000006.10:g.35899405G>A NCBI36
NG_012184.1:g.23357G>A
NG_012184.2:g.23357G>A
NG_012184.3:g.31445G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.*685G>A MANE Select ENSP00000353346.1:n.*685G>A
ENST00000496656.2:n.578+3830G>A
ENST00000651132.1:c.*685G>A ENSP00000498322.1:n.*685G>A
ENST00000651676.1:c.*16+4187G>A ENSP00000498699.1:n.*16+4187G>A
ENST00000651994.1:c.*765G>A ENSP00000498310.1:n.*765G>A
ENST00000652718.1:c.508+4187G>A ENSP00000498866.1:n.508+4187G>A
ENST00000360215.2:c.*685G>A ENSP00000353346.1:n.*685G>A
ENST00000496656.1:n.812+3830G>A
NM_182548.3:c.*685G>A NP_872354.1:n.*685G>A
NM_182548.4:c.*685G>A MANE Select NP_872354.1:n.*685G>A