Canonical Allele Identifier: CA348592767
Gene: LCT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135800678T>A , CM000664.2:g.135800678T>A GRCh38
NC_000002.11:g.136558248T>A , CM000664.1:g.136558248T>A GRCh37
NC_000002.10:g.136274718T>A NCBI36
NG_008104.2:g.59492A>T , LRG_338:g.59492A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.4795A>T MANE Select ENSP00000264162.2:p.Ser1599Cys
ENST00000264162.6:c.4795A>T ENSP00000264162.2:p.Ser1599Cys
ENST00000452974.1:c.2960-2540A>T ENSP00000391231.1:n.2960-2540A>T
NM_002299.2:c.4795A>T , LRG_338t1:c.4795A>T NP_002290.2:p.Ser1599Cys
NM_002299.3:c.4795A>T NP_002290.2:p.Ser1599Cys
XM_017004088.2:c.4795A>T XP_016859577.1:p.Ser1599Cys
NM_002299.4:c.4795A>T MANE Select NP_002290.2:p.Ser1599Cys