Canonical Allele Identifier: CA450125320
Gene: LHFPL5 HGNC NCBI

Linked Data

dbSNP Id: rs779493090
gnomAD v2: 6-35773690-C-T
gnomAD v4: 6-35805913-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35805913C>T , CM000668.2:g.35805913C>T GRCh38
NC_000006.11:g.35773690C>T , CM000668.1:g.35773690C>T GRCh37
NC_000006.10:g.35881668C>T NCBI36
NG_012184.1:g.5620C>T
NG_012184.2:g.5620C>T
NG_012184.3:g.13708C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.243C>T MANE Select ENSP00000353346.1:p.Gly81=
ENST00000651132.1:c.243C>T ENSP00000498322.1:p.Gly81=
ENST00000651676.1:c.243C>T ENSP00000498699.1:p.Gly81=
ENST00000651994.1:c.243C>T ENSP00000498310.1:p.Gly81=
ENST00000652718.1:c.75C>T ENSP00000498866.1:p.Gly25=
ENST00000360215.2:c.243C>T ENSP00000353346.1:p.Gly81=
NM_182548.3:c.243C>T NP_872354.1:p.Gly81=
XM_011514403.1:c.243C>T XP_011512705.1:p.Gly81=
NM_182548.4:c.243C>T MANE Select NP_872354.1:p.Gly81=