Canonical Allele Identifier: CA363785185
Gene: LHFPL5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35806055A>C , CM000668.2:g.35806055A>C GRCh38
NC_000006.11:g.35773832A>C , CM000668.1:g.35773832A>C GRCh37
NC_000006.10:g.35881810A>C NCBI36
NG_012184.1:g.5762A>C
NG_012184.2:g.5762A>C
NG_012184.3:g.13850A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360215.3:c.385A>C MANE Select ENSP00000353346.1:p.Ile129Leu
ENST00000651132.1:c.385A>C ENSP00000498322.1:p.Ile129Leu
ENST00000651676.1:c.385A>C ENSP00000498699.1:p.Ile129Leu
ENST00000651994.1:c.385A>C ENSP00000498310.1:p.Ile129Leu
ENST00000652718.1:c.217A>C ENSP00000498866.1:p.Ile73Leu
ENST00000360215.2:c.385A>C ENSP00000353346.1:p.Ile129Leu
NM_182548.3:c.385A>C NP_872354.1:p.Ile129Leu
XM_011514403.1:c.385A>C XP_011512705.1:p.Ile129Leu
NM_182548.4:c.385A>C MANE Select NP_872354.1:p.Ile129Leu