Canonical Allele Identifier: CA137313510
Gene: LHFPL5 HGNC NCBI

Linked Data

dbSNP Id: rs778999762
gnomAD v3: 6-35823100-T-C
gnomAD v4: 6-35823100-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35823100T>C , CM000668.2:g.35823100T>C GRCh38
NC_000006.11:g.35790877T>C , CM000668.1:g.35790877T>C GRCh37
NC_000006.10:g.35898855T>C NCBI36
NG_012184.1:g.22807T>C
NG_012184.2:g.22807T>C
NG_012184.3:g.30895T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360215.3:c.*135T>C MANE Select ENSP00000353346.1:n.*135T>C
ENST00000496656.2:n.578+3280T>C
ENST00000651132.1:c.*135T>C ENSP00000498322.1:n.*135T>C
ENST00000651676.1:c.*16+3637T>C ENSP00000498699.1:n.*16+3637T>C
ENST00000651994.1:c.*215T>C ENSP00000498310.1:n.*215T>C
ENST00000652718.1:c.508+3637T>C ENSP00000498866.1:n.508+3637T>C
ENST00000360215.2:c.*135T>C ENSP00000353346.1:n.*135T>C
ENST00000496656.1:n.812+3280T>C
NM_182548.3:c.*135T>C NP_872354.1:n.*135T>C
XM_011514403.1:c.*135T>C XP_011512705.1:n.*135T>C
NM_182548.4:c.*135T>C MANE Select NP_872354.1:n.*135T>C