Canonical Allele Identifier: CA450125079
Gene: LHFPL5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.35782327A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35814550A>C , CM000668.2:g.35814550A>C GRCh38
NC_000006.11:g.35782327A>C , CM000668.1:g.35782327A>C GRCh37
NC_000006.10:g.35890305A>C NCBI36
NG_012184.1:g.14257A>C
NG_012184.2:g.14257A>C
NG_012184.3:g.22345A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360215.3:c.417A>C MANE Select ENSP00000353346.1:p.Thr139=
ENST00000496656.2:n.196A>C
ENST00000651132.1:c.417A>C ENSP00000498322.1:p.Thr139=
ENST00000651676.1:c.417A>C ENSP00000498699.1:p.Thr139=
ENST00000651994.1:c.*70-4887A>C ENSP00000498310.1:n.*70-4887A>C
ENST00000652718.1:c.249A>C ENSP00000498866.1:p.Thr83=
ENST00000360215.2:c.417A>C ENSP00000353346.1:p.Thr139=
ENST00000496656.1:n.196A>C
NM_182548.3:c.417A>C NP_872354.1:p.Thr139=
XM_011514403.1:c.417A>C XP_011512705.1:p.Thr139=
NM_182548.4:c.417A>C MANE Select NP_872354.1:p.Thr139=