Canonical Allele Identifier: CA450125360
Gene: LHFPL5 HGNC NCBI

Linked Data

gnomAD v4: 6-35805970-T-C
MyVariant Identifiers: chr6:g.35773747T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35805970T>C , CM000668.2:g.35805970T>C GRCh38
NC_000006.11:g.35773747T>C , CM000668.1:g.35773747T>C GRCh37
NC_000006.10:g.35881725T>C NCBI36
NG_012184.1:g.5677T>C
NG_012184.2:g.5677T>C
NG_012184.3:g.13765T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.300T>C MANE Select ENSP00000353346.1:p.Phe100=
ENST00000651132.1:c.300T>C ENSP00000498322.1:p.Phe100=
ENST00000651676.1:c.300T>C ENSP00000498699.1:p.Phe100=
ENST00000651994.1:c.300T>C ENSP00000498310.1:p.Phe100=
ENST00000652718.1:c.132T>C ENSP00000498866.1:p.Phe44=
ENST00000360215.2:c.300T>C ENSP00000353346.1:p.Phe100=
NM_182548.3:c.300T>C NP_872354.1:p.Phe100=
XM_011514403.1:c.300T>C XP_011512705.1:p.Phe100=
NM_182548.4:c.300T>C MANE Select NP_872354.1:p.Phe100=