Canonical Allele Identifier: CA251915
Gene: LHFPL5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1695
ClinVar RCV Id: RCV000001763
dbSNP Id: rs104893975

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35806050A>G , CM000668.2:g.35806050A>G GRCh38
NC_000006.11:g.35773827A>G , CM000668.1:g.35773827A>G GRCh37
NC_000006.10:g.35881805A>G NCBI36
NG_012184.1:g.5757A>G

Transcript Alleles

HGVS Amino-acid change
NM_182548.3:c.380A>G VV NP_872354.1:p.Tyr127Cys
XM_011514403.1:c.380A>G XP_011512705.1:p.Tyr127Cys
ENST00000360215.2:c.380A>G ENSP00000353346.1:p.Tyr127Cys