Canonical Allele Identifier: CA3774421
Gene: LHFPL5 HGNC NCBI

Linked Data

dbSNP Id: rs147861688
gnomAD v2: 6-35782370-T-G
gnomAD v4: 6-35814593-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35814593T>G , CM000668.2:g.35814593T>G GRCh38
NC_000006.11:g.35782370T>G , CM000668.1:g.35782370T>G GRCh37
NC_000006.10:g.35890348T>G NCBI36
NG_012184.1:g.14300T>G
NG_012184.2:g.14300T>G
NG_012184.3:g.22388T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.460T>G MANE Select ENSP00000353346.1:p.Ser154Ala
ENST00000496656.2:n.239T>G
ENST00000651132.1:c.460T>G ENSP00000498322.1:p.Ser154Ala
ENST00000651676.1:c.460T>G ENSP00000498699.1:p.Ser154Ala
ENST00000651994.1:c.*70-4844T>G ENSP00000498310.1:n.*70-4844T>G
ENST00000652718.1:c.292T>G ENSP00000498866.1:p.Ser98Ala
ENST00000360215.2:c.460T>G ENSP00000353346.1:p.Ser154Ala
ENST00000496656.1:n.239T>G
NM_182548.3:c.460T>G NP_872354.1:p.Ser154Ala
XM_011514403.1:c.460T>G XP_011512705.1:p.Ser154Ala
NM_182548.4:c.460T>G MANE Select NP_872354.1:p.Ser154Ala