Canonical Allele Identifier: CA348586380
Gene: LCT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135789666A>C , CM000664.2:g.135789666A>C GRCh38
NC_000002.11:g.136547236A>C , CM000664.1:g.136547236A>C GRCh37
NC_000002.10:g.136263706A>C NCBI36
NG_008104.2:g.70504T>G , LRG_338:g.70504T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.5468T>G MANE Select ENSP00000264162.2:p.Ile1823Ser
ENST00000264162.6:c.5468T>G ENSP00000264162.2:p.Ile1823Ser
NM_002299.2:c.5468T>G , LRG_338t1:c.5468T>G NP_002290.2:p.Ile1823Ser
NM_002299.3:c.5468T>G NP_002290.2:p.Ile1823Ser
NM_002299.4:c.5468T>G MANE Select NP_002290.2:p.Ile1823Ser