Canonical Allele Identifier: CA437347258
Gene: LIPH HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.185236987T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.185519199T>G , CM000665.2:g.185519199T>G GRCh38
NC_000003.11:g.185236987T>G , CM000665.1:g.185236987T>G GRCh37
NC_000003.10:g.186719681T>G NCBI36
NG_012183.1:g.38383A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000296252.9:c.829A>C MANE Select ENSP00000296252.4:p.Arg277=
ENST00000296252.8:c.829A>C ENSP00000296252.4:p.Arg277=
ENST00000424591.6:c.727A>C ENSP00000396384.2:p.Arg243=
ENST00000452897.1:c.201A>C
NM_139248.2:c.829A>C NP_640341.1:p.Arg277=
XM_006713529.2:c.739A>C XP_006713592.1:p.Arg247=
XM_011512530.1:c.700A>C XP_011510832.1:p.Arg234=
XM_011512531.1:c.700A>C XP_011510833.1:p.Arg234=
XM_006713529.4:c.739A>C XP_006713592.1:p.Arg247=
XM_011512530.3:c.700A>C XP_011510832.1:p.Arg234=
XM_011512531.3:c.700A>C XP_011510833.1:p.Arg234=
XM_017005852.2:c.727A>C XP_016861341.1:p.Arg243=
NM_139248.3:c.829A>C MANE Select NP_640341.1:p.Arg277=