Canonical Allele Identifier: CA363784713
Gene: LHFPL5 HGNC NCBI

Linked Data

dbSNP Id: rs1768562110
gnomAD v3: 6-35805957-C-G
gnomAD v4: 6-35805957-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35805957C>G , CM000668.2:g.35805957C>G GRCh38
NC_000006.11:g.35773734C>G , CM000668.1:g.35773734C>G GRCh37
NC_000006.10:g.35881712C>G NCBI36
NG_012184.1:g.5664C>G
NG_012184.2:g.5664C>G
NG_012184.3:g.13752C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.287C>G MANE Select ENSP00000353346.1:p.Thr96Ser
ENST00000651132.1:c.287C>G ENSP00000498322.1:p.Thr96Ser
ENST00000651676.1:c.287C>G ENSP00000498699.1:p.Thr96Ser
ENST00000651994.1:c.287C>G ENSP00000498310.1:p.Thr96Ser
ENST00000652718.1:c.119C>G ENSP00000498866.1:p.Thr40Ser
ENST00000360215.2:c.287C>G ENSP00000353346.1:p.Thr96Ser
NM_182548.3:c.287C>G NP_872354.1:p.Thr96Ser
XM_011514403.1:c.287C>G XP_011512705.1:p.Thr96Ser
NM_182548.4:c.287C>G MANE Select NP_872354.1:p.Thr96Ser