Canonical Allele Identifier: CA348592795
Gene: LCT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135800681T>G , CM000664.2:g.135800681T>G GRCh38
NC_000002.11:g.136558251T>G , CM000664.1:g.136558251T>G GRCh37
NC_000002.10:g.136274721T>G NCBI36
NG_008104.2:g.59489A>C , LRG_338:g.59489A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.4792A>C MANE Select ENSP00000264162.2:p.Ile1598Leu
ENST00000264162.6:c.4792A>C ENSP00000264162.2:p.Ile1598Leu
ENST00000452974.1:c.2960-2543A>C ENSP00000391231.1:n.2960-2543A>C
NM_002299.2:c.4792A>C , LRG_338t1:c.4792A>C NP_002290.2:p.Ile1598Leu
NM_002299.3:c.4792A>C NP_002290.2:p.Ile1598Leu
XM_017004088.2:c.4792A>C XP_016859577.1:p.Ile1598Leu
NM_002299.4:c.4792A>C MANE Select NP_002290.2:p.Ile1598Leu