Canonical Allele Identifier: CA348605811
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs1447178344

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135817451G>A , CM000664.2:g.135817451G>A GRCh38
NC_000002.11:g.136575021G>A , CM000664.1:g.136575021G>A GRCh37
NC_000002.10:g.136291491G>A NCBI36
NG_008104.2:g.42719C>T , LRG_338:g.42719C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.1597C>T MANE Select ENSP00000264162.2:p.Arg533Cys
ENST00000264162.6:c.1597C>T ENSP00000264162.2:p.Arg533Cys
NM_002299.2:c.1597C>T , LRG_338t1:c.1597C>T NP_002290.2:p.Arg533Cys
NM_002299.3:c.1597C>T NP_002290.2:p.Arg533Cys
XM_017004088.2:c.1597C>T XP_016859577.1:p.Arg533Cys
NM_002299.4:c.1597C>T MANE Select NP_002290.2:p.Arg533Cys