Canonical Allele Identifier: CA363785245
Gene: LHFPL5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35806072G>T , CM000668.2:g.35806072G>T GRCh38
NC_000006.11:g.35773849G>T , CM000668.1:g.35773849G>T GRCh37
NC_000006.10:g.35881827G>T NCBI36
NG_012184.1:g.5779G>T
NG_012184.2:g.5779G>T
NG_012184.3:g.13867G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.402G>T MANE Select ENSP00000353346.1:p.Gln134His
ENST00000651132.1:c.402G>T ENSP00000498322.1:p.Gln134His
ENST00000651676.1:c.402G>T ENSP00000498699.1:p.Gln134His
ENST00000651994.1:c.402G>T ENSP00000498310.1:p.Gln134His
ENST00000652718.1:c.234G>T ENSP00000498866.1:p.Gln78His
ENST00000360215.2:c.402G>T ENSP00000353346.1:p.Gln134His
NM_182548.3:c.402G>T NP_872354.1:p.Gln134His
XM_011514403.1:c.402G>T XP_011512705.1:p.Gln134His
NM_182548.4:c.402G>T MANE Select NP_872354.1:p.Gln134His