Canonical Allele Identifier: CA348586219
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs1207320120

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135789640C>T , CM000664.2:g.135789640C>T GRCh38
NC_000002.11:g.136547210C>T , CM000664.1:g.136547210C>T GRCh37
NC_000002.10:g.136263680C>T NCBI36
NG_008104.2:g.70530G>A , LRG_338:g.70530G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.5494G>A MANE Select ENSP00000264162.2:p.Ala1832Thr
ENST00000264162.6:c.5494G>A ENSP00000264162.2:p.Ala1832Thr
NM_002299.2:c.5494G>A , LRG_338t1:c.5494G>A NP_002290.2:p.Ala1832Thr
NM_002299.3:c.5494G>A NP_002290.2:p.Ala1832Thr
NM_002299.4:c.5494G>A MANE Select NP_002290.2:p.Ala1832Thr