Canonical Allele Identifier: CA363785772
Gene: LHFPL5 HGNC NCBI

Linked Data

dbSNP Id: rs1362086064
gnomAD v2: 6-35782358-G-T
gnomAD v3: 6-35814581-G-T
gnomAD v4: 6-35814581-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35814581G>T , CM000668.2:g.35814581G>T GRCh38
NC_000006.11:g.35782358G>T , CM000668.1:g.35782358G>T GRCh37
NC_000006.10:g.35890336G>T NCBI36
NG_012184.1:g.14288G>T
NG_012184.2:g.14288G>T
NG_012184.3:g.22376G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.448G>T MANE Select ENSP00000353346.1:p.Asp150Tyr
ENST00000496656.2:n.227G>T
ENST00000651132.1:c.448G>T ENSP00000498322.1:p.Asp150Tyr
ENST00000651676.1:c.448G>T ENSP00000498699.1:p.Asp150Tyr
ENST00000651994.1:c.*70-4856G>T ENSP00000498310.1:n.*70-4856G>T
ENST00000652718.1:c.280G>T ENSP00000498866.1:p.Asp94Tyr
ENST00000360215.2:c.448G>T ENSP00000353346.1:p.Asp150Tyr
ENST00000496656.1:n.227G>T
NM_182548.3:c.448G>T NP_872354.1:p.Asp150Tyr
XM_011514403.1:c.448G>T XP_011512705.1:p.Asp150Tyr
NM_182548.4:c.448G>T MANE Select NP_872354.1:p.Asp150Tyr