Canonical Allele Identifier: CA450125359
Gene: LHFPL5 HGNC NCBI

Linked Data

dbSNP Id: rs2151068777
gnomAD v4: 6-35805967-C-T
MyVariant Identifiers: chr6:g.35773744C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35805967C>T , CM000668.2:g.35805967C>T GRCh38
NC_000006.11:g.35773744C>T , CM000668.1:g.35773744C>T GRCh37
NC_000006.10:g.35881722C>T NCBI36
NG_012184.1:g.5674C>T
NG_012184.2:g.5674C>T
NG_012184.3:g.13762C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.297C>T MANE Select ENSP00000353346.1:p.Phe99=
ENST00000651132.1:c.297C>T ENSP00000498322.1:p.Phe99=
ENST00000651676.1:c.297C>T ENSP00000498699.1:p.Phe99=
ENST00000651994.1:c.297C>T ENSP00000498310.1:p.Phe99=
ENST00000652718.1:c.129C>T ENSP00000498866.1:p.Phe43=
ENST00000360215.2:c.297C>T ENSP00000353346.1:p.Phe99=
NM_182548.3:c.297C>T NP_872354.1:p.Phe99=
XM_011514403.1:c.297C>T XP_011512705.1:p.Phe99=
NM_182548.4:c.297C>T MANE Select NP_872354.1:p.Phe99=