Canonical Allele Identifier: CA348586170
Gene: LCT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135789631C>G , CM000664.2:g.135789631C>G GRCh38
NC_000002.11:g.136547201C>G , CM000664.1:g.136547201C>G GRCh37
NC_000002.10:g.136263671C>G NCBI36
NG_008104.2:g.70539G>C , LRG_338:g.70539G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.5503G>C MANE Select ENSP00000264162.2:p.Val1835Leu
ENST00000264162.6:c.5503G>C ENSP00000264162.2:p.Val1835Leu
NM_002299.2:c.5503G>C , LRG_338t1:c.5503G>C NP_002290.2:p.Val1835Leu
NM_002299.3:c.5503G>C NP_002290.2:p.Val1835Leu
NM_002299.4:c.5503G>C MANE Select NP_002290.2:p.Val1835Leu