Canonical Allele Identifier: CA348592286
Gene: LCT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135800609G>T , CM000664.2:g.135800609G>T GRCh38
NC_000002.11:g.136558179G>T , CM000664.1:g.136558179G>T GRCh37
NC_000002.10:g.136274649G>T NCBI36
NG_008104.2:g.59561C>A , LRG_338:g.59561C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.4864C>A MANE Select ENSP00000264162.2:p.Gln1622Lys
ENST00000264162.6:c.4864C>A ENSP00000264162.2:p.Gln1622Lys
ENST00000452974.1:c.2960-2471C>A ENSP00000391231.1:n.2960-2471C>A
NM_002299.2:c.4864C>A , LRG_338t1:c.4864C>A NP_002290.2:p.Gln1622Lys
NM_002299.3:c.4864C>A NP_002290.2:p.Gln1622Lys
XM_017004088.2:c.4864C>A XP_016859577.1:p.Gln1622Lys
NM_002299.4:c.4864C>A MANE Select NP_002290.2:p.Gln1622Lys