Canonical Allele Identifier: CA348608830
Gene: LCT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135833166C>A , CM000664.2:g.135833166C>A GRCh38
NC_000002.11:g.136590736C>A , CM000664.1:g.136590736C>A GRCh37
NC_000002.10:g.136307206C>A NCBI36
NG_008104.2:g.27004G>T , LRG_338:g.27004G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.665G>T MANE Select ENSP00000264162.2:p.Arg222Leu
ENST00000264162.6:c.665G>T ENSP00000264162.2:p.Arg222Leu
NM_002299.2:c.665G>T , LRG_338t1:c.665G>T NP_002290.2:p.Arg222Leu
NM_002299.3:c.665G>T NP_002290.2:p.Arg222Leu
XM_017004088.2:c.665G>T XP_016859577.1:p.Arg222Leu
NM_002299.4:c.665G>T MANE Select NP_002290.2:p.Arg222Leu