Canonical Allele Identifier: CA348592659
Gene: LCT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135800665G>A , CM000664.2:g.135800665G>A GRCh38
NC_000002.11:g.136558235G>A , CM000664.1:g.136558235G>A GRCh37
NC_000002.10:g.136274705G>A NCBI36
NG_008104.2:g.59505C>T , LRG_338:g.59505C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.4808C>T MANE Select ENSP00000264162.2:p.Ala1603Val
ENST00000264162.6:c.4808C>T ENSP00000264162.2:p.Ala1603Val
ENST00000452974.1:c.2960-2527C>T ENSP00000391231.1:n.2960-2527C>T
NM_002299.2:c.4808C>T , LRG_338t1:c.4808C>T NP_002290.2:p.Ala1603Val
NM_002299.3:c.4808C>T NP_002290.2:p.Ala1603Val
XM_017004088.2:c.4808C>T XP_016859577.1:p.Ala1603Val
NM_002299.4:c.4808C>T MANE Select NP_002290.2:p.Ala1603Val