Canonical Allele Identifier: CA363785201

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1458872576
• gnomAD v3: 6-35806061-G-T
• gnomAD v4: 6-35806061-G-T
• MyVariant Identifiers: chr6:g.35773838G>T (hg19) ; chr6:g.35806061G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35806061G>T , CM000668.2:g.35806061G>T	GRCh38
NC_000006.11:g.35773838G>T , CM000668.1:g.35773838G>T	GRCh37
NC_000006.10:g.35881816G>T	NCBI36
NG_012184.1:g.5768G>T
NG_012184.2:g.5768G>T
NG_012184.3:g.13856G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360215.3:c.391G>T MANE Select	ENSP00000353346.1:p.Ala131Ser
ENST00000651132.1:c.391G>T	ENSP00000498322.1:p.Ala131Ser
ENST00000651676.1:c.391G>T	ENSP00000498699.1:p.Ala131Ser
ENST00000651994.1:c.391G>T	ENSP00000498310.1:p.Ala131Ser
ENST00000652718.1:c.223G>T	ENSP00000498866.1:p.Ala75Ser
ENST00000360215.2:c.391G>T	ENSP00000353346.1:p.Ala131Ser
NM_182548.3:c.391G>T	NP_872354.1:p.Ala131Ser
XM_011514403.1:c.391G>T	XP_011512705.1:p.Ala131Ser
NM_182548.4:c.391G>T MANE Select	NP_872354.1:p.Ala131Ser