Canonical Allele Identifier: CA1290827638
Gene: LCT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135800750G= , CM000664.2:g.135800750G= GRCh38
NC_000002.11:g.136558320G= , CM000664.1:g.136558320G= GRCh37
NC_000002.10:g.136274790G= NCBI36
NG_008104.2:g.59420C= , LRG_338:g.59420C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.4723C= MANE Select ENSP00000264162.2:p.His1575=
ENST00000264162.6:c.4723C= ENSP00000264162.2:p.His1575=
ENST00000452974.1:c.2960-2612C= ENSP00000391231.1:n.2960-2612C=
NM_002299.2:c.4723C= , LRG_338t1:c.4723C= NP_002290.2:p.His1575=
NM_002299.3:c.4723C= NP_002290.2:p.His1575=
XM_017004088.2:c.4723C= XP_016859577.1:p.His1575=
NM_002299.4:c.4723C= MANE Select NP_002290.2:p.His1575=