Canonical Allele Identifier: CA348592309
Gene: LCT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135800615A>C , CM000664.2:g.135800615A>C GRCh38
NC_000002.11:g.136558185A>C , CM000664.1:g.136558185A>C GRCh37
NC_000002.10:g.136274655A>C NCBI36
NG_008104.2:g.59555T>G , LRG_338:g.59555T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.4858T>G MANE Select ENSP00000264162.2:p.Tyr1620Asp
ENST00000264162.6:c.4858T>G ENSP00000264162.2:p.Tyr1620Asp
ENST00000452974.1:c.2960-2477T>G ENSP00000391231.1:n.2960-2477T>G
NM_002299.2:c.4858T>G , LRG_338t1:c.4858T>G NP_002290.2:p.Tyr1620Asp
NM_002299.3:c.4858T>G NP_002290.2:p.Tyr1620Asp
XM_017004088.2:c.4858T>G XP_016859577.1:p.Tyr1620Asp
NM_002299.4:c.4858T>G MANE Select NP_002290.2:p.Tyr1620Asp