Canonical Allele Identifier: CA137307576
Gene: LHFPL5 HGNC NCBI

Linked Data

dbSNP Id: rs1032078295
gnomAD v2: 6-35773762-G-A
gnomAD v4: 6-35805985-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35805985G>A , CM000668.2:g.35805985G>A GRCh38
NC_000006.11:g.35773762G>A , CM000668.1:g.35773762G>A GRCh37
NC_000006.10:g.35881740G>A NCBI36
NG_012184.1:g.5692G>A
NG_012184.2:g.5692G>A
NG_012184.3:g.13780G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.315G>A MANE Select ENSP00000353346.1:p.Met105Ile
ENST00000651132.1:c.315G>A ENSP00000498322.1:p.Met105Ile
ENST00000651676.1:c.315G>A ENSP00000498699.1:p.Met105Ile
ENST00000651994.1:c.315G>A ENSP00000498310.1:p.Met105Ile
ENST00000652718.1:c.147G>A ENSP00000498866.1:p.Met49Ile
ENST00000360215.2:c.315G>A ENSP00000353346.1:p.Met105Ile
NM_182548.3:c.315G>A NP_872354.1:p.Met105Ile
XM_011514403.1:c.315G>A XP_011512705.1:p.Met105Ile
NM_182548.4:c.315G>A MANE Select NP_872354.1:p.Met105Ile