Canonical Allele Identifier: CA348585980
Gene: LCT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135789595G>C , CM000664.2:g.135789595G>C GRCh38
NC_000002.11:g.136547165G>C , CM000664.1:g.136547165G>C GRCh37
NC_000002.10:g.136263635G>C NCBI36
NG_008104.2:g.70575C>G , LRG_338:g.70575C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.5539C>G MANE Select ENSP00000264162.2:p.Pro1847Ala
ENST00000264162.6:c.5539C>G ENSP00000264162.2:p.Pro1847Ala
NM_002299.2:c.5539C>G , LRG_338t1:c.5539C>G NP_002290.2:p.Pro1847Ala
NM_002299.3:c.5539C>G NP_002290.2:p.Pro1847Ala
NM_002299.4:c.5539C>G MANE Select NP_002290.2:p.Pro1847Ala