Canonical Allele Identifier: CA348608797
Gene: LCT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135833149C>T , CM000664.2:g.135833149C>T GRCh38
NC_000002.11:g.136590719C>T , CM000664.1:g.136590719C>T GRCh37
NC_000002.10:g.136307189C>T NCBI36
NG_008104.2:g.27021G>A , LRG_338:g.27021G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.682G>A MANE Select ENSP00000264162.2:p.Glu228Lys
ENST00000264162.6:c.682G>A ENSP00000264162.2:p.Glu228Lys
NM_002299.2:c.682G>A , LRG_338t1:c.682G>A NP_002290.2:p.Glu228Lys
NM_002299.3:c.682G>A NP_002290.2:p.Glu228Lys
XM_017004088.2:c.682G>A XP_016859577.1:p.Glu228Lys
NM_002299.4:c.682G>A MANE Select NP_002290.2:p.Glu228Lys