Canonical Allele Identifier: CA348605781
Gene: LCT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135817437C>G , CM000664.2:g.135817437C>G GRCh38
NC_000002.11:g.136575007C>G , CM000664.1:g.136575007C>G GRCh37
NC_000002.10:g.136291477C>G NCBI36
NG_008104.2:g.42733G>C , LRG_338:g.42733G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.1611G>C MANE Select ENSP00000264162.2:p.Trp537Cys
ENST00000264162.6:c.1611G>C ENSP00000264162.2:p.Trp537Cys
NM_002299.2:c.1611G>C , LRG_338t1:c.1611G>C NP_002290.2:p.Trp537Cys
NM_002299.3:c.1611G>C NP_002290.2:p.Trp537Cys
XM_017004088.2:c.1611G>C XP_016859577.1:p.Trp537Cys
NM_002299.4:c.1611G>C MANE Select NP_002290.2:p.Trp537Cys