Canonical Allele Identifier: CA348586455
Gene: LCT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135789686A>T , CM000664.2:g.135789686A>T GRCh38
NC_000002.11:g.136547256A>T , CM000664.1:g.136547256A>T GRCh37
NC_000002.10:g.136263726A>T NCBI36
NG_008104.2:g.70484T>A , LRG_338:g.70484T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.5448T>A MANE Select ENSP00000264162.2:p.Ser1816Arg
ENST00000264162.6:c.5448T>A ENSP00000264162.2:p.Ser1816Arg
NM_002299.2:c.5448T>A , LRG_338t1:c.5448T>A NP_002290.2:p.Ser1816Arg
NM_002299.3:c.5448T>A NP_002290.2:p.Ser1816Arg
NM_002299.4:c.5448T>A MANE Select NP_002290.2:p.Ser1816Arg