Canonical Allele Identifier: CA137307556
Gene: LHFPL5 HGNC NCBI

Linked Data

dbSNP Id: rs966322716
gnomAD v4: 6-35805939-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35805939C>T , CM000668.2:g.35805939C>T GRCh38
NC_000006.11:g.35773716C>T , CM000668.1:g.35773716C>T GRCh37
NC_000006.10:g.35881694C>T NCBI36
NG_012184.1:g.5646C>T
NG_012184.2:g.5646C>T
NG_012184.3:g.13734C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.269C>T MANE Select ENSP00000353346.1:p.Pro90Leu
ENST00000651132.1:c.269C>T ENSP00000498322.1:p.Pro90Leu
ENST00000651676.1:c.269C>T ENSP00000498699.1:p.Pro90Leu
ENST00000651994.1:c.269C>T ENSP00000498310.1:p.Pro90Leu
ENST00000652718.1:c.101C>T ENSP00000498866.1:p.Pro34Leu
ENST00000360215.2:c.269C>T ENSP00000353346.1:p.Pro90Leu
NM_182548.3:c.269C>T NP_872354.1:p.Pro90Leu
XM_011514403.1:c.269C>T XP_011512705.1:p.Pro90Leu
NM_182548.4:c.269C>T MANE Select NP_872354.1:p.Pro90Leu