Canonical Allele Identifier: CA348590964
Gene: LCT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135798098C>A , CM000664.2:g.135798098C>A GRCh38
NC_000002.11:g.136555668C>A , CM000664.1:g.136555668C>A GRCh37
NC_000002.10:g.136272138C>A NCBI36
NG_008104.2:g.62072G>T , LRG_338:g.62072G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.4907G>T MANE Select ENSP00000264162.2:p.Gly1636Val
ENST00000264162.6:c.4907G>T ENSP00000264162.2:p.Gly1636Val
ENST00000452974.1:c.3000G>T ENSP00000391231.1:p.Trp1000Cys
NM_002299.2:c.4907G>T , LRG_338t1:c.4907G>T NP_002290.2:p.Gly1636Val
NM_002299.3:c.4907G>T NP_002290.2:p.Gly1636Val
XM_017004088.2:c.4907G>T XP_016859577.1:p.Gly1636Val
NM_002299.4:c.4907G>T MANE Select NP_002290.2:p.Gly1636Val