Canonical Allele Identifier: CA348605808
Gene: LCT HGNC NCBI

Linked Data

COSMIC: COSM321364

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135817450C>A , CM000664.2:g.135817450C>A GRCh38
NC_000002.11:g.136575020C>A , CM000664.1:g.136575020C>A GRCh37
NC_000002.10:g.136291490C>A NCBI36
NG_008104.2:g.42720G>T , LRG_338:g.42720G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.1598G>T MANE Select ENSP00000264162.2:p.Arg533Leu
ENST00000264162.6:c.1598G>T ENSP00000264162.2:p.Arg533Leu
NM_002299.2:c.1598G>T , LRG_338t1:c.1598G>T NP_002290.2:p.Arg533Leu
NM_002299.3:c.1598G>T NP_002290.2:p.Arg533Leu
XM_017004088.2:c.1598G>T XP_016859577.1:p.Arg533Leu
NM_002299.4:c.1598G>T MANE Select NP_002290.2:p.Arg533Leu