Canonical Allele Identifier: CA348608764
Gene: LCT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135833134G>T , CM000664.2:g.135833134G>T GRCh38
NC_000002.11:g.136590704G>T , CM000664.1:g.136590704G>T GRCh37
NC_000002.10:g.136307174G>T NCBI36
NG_008104.2:g.27036C>A , LRG_338:g.27036C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.697C>A MANE Select ENSP00000264162.2:p.Pro233Thr
ENST00000264162.6:c.697C>A ENSP00000264162.2:p.Pro233Thr
NM_002299.2:c.697C>A , LRG_338t1:c.697C>A NP_002290.2:p.Pro233Thr
NM_002299.3:c.697C>A NP_002290.2:p.Pro233Thr
XM_017004088.2:c.697C>A XP_016859577.1:p.Pro233Thr
NM_002299.4:c.697C>A MANE Select NP_002290.2:p.Pro233Thr