Canonical Allele Identifier: CA363785166
Gene: LHFPL5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35806052A>C , CM000668.2:g.35806052A>C GRCh38
NC_000006.11:g.35773829A>C , CM000668.1:g.35773829A>C GRCh37
NC_000006.10:g.35881807A>C NCBI36
NG_012184.1:g.5759A>C
NG_012184.2:g.5759A>C
NG_012184.3:g.13847A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360215.3:c.382A>C MANE Select ENSP00000353346.1:p.Lys128Gln
ENST00000651132.1:c.382A>C ENSP00000498322.1:p.Lys128Gln
ENST00000651676.1:c.382A>C ENSP00000498699.1:p.Lys128Gln
ENST00000651994.1:c.382A>C ENSP00000498310.1:p.Lys128Gln
ENST00000652718.1:c.214A>C ENSP00000498866.1:p.Lys72Gln
ENST00000360215.2:c.382A>C ENSP00000353346.1:p.Lys128Gln
NM_182548.3:c.382A>C NP_872354.1:p.Lys128Gln
XM_011514403.1:c.382A>C XP_011512705.1:p.Lys128Gln
NM_182548.4:c.382A>C MANE Select NP_872354.1:p.Lys128Gln