Canonical Allele Identifier: CA348586161
Gene: LCT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135789630A>G , CM000664.2:g.135789630A>G GRCh38
NC_000002.11:g.136547200A>G , CM000664.1:g.136547200A>G GRCh37
NC_000002.10:g.136263670A>G NCBI36
NG_008104.2:g.70540T>C , LRG_338:g.70540T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.5504T>C MANE Select ENSP00000264162.2:p.Val1835Ala
ENST00000264162.6:c.5504T>C ENSP00000264162.2:p.Val1835Ala
NM_002299.2:c.5504T>C , LRG_338t1:c.5504T>C NP_002290.2:p.Val1835Ala
NM_002299.3:c.5504T>C NP_002290.2:p.Val1835Ala
NM_002299.4:c.5504T>C MANE Select NP_002290.2:p.Val1835Ala