Canonical Allele Identifier: CA144315
Gene: LCT HGNC NCBI

Linked Data

ClinVar Variation Id: 56389
ClinVar RCV Id: RCV000049802
dbSNP Id: rs386833834

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135804812G>C , CM000664.2:g.135804812G>C GRCh38
NC_000002.11:g.136562382G>C , CM000664.1:g.136562382G>C GRCh37
NC_000002.10:g.136278852G>C NCBI36
NG_008104.2:g.55358C>G , LRG_338:g.55358C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.4419C>G MANE Select ENSP00000264162.2:p.Tyr1473Ter
ENST00000264162.6:c.4419C>G ENSP00000264162.2:p.Tyr1473Ter
ENST00000452974.1:c.2715C>G ENSP00000391231.1:p.Tyr905Ter
NM_002299.2:c.4419C>G , LRG_338t1:c.4419C>G NP_002290.2:p.Tyr1473Ter
NM_002299.3:c.4419C>G NP_002290.2:p.Tyr1473Ter
XM_017004088.2:c.4419C>G XP_016859577.1:p.Tyr1473Ter
NM_002299.4:c.4419C>G MANE Select NP_002290.2:p.Tyr1473Ter