Canonical Allele Identifier: CA118360
Gene: LCT HGNC NCBI

Linked Data

ClinVar Variation Id: 6586
ClinVar RCV Id: RCV000006964
dbSNP Id: rs121908936

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135807131A>T , CM000664.2:g.135807131A>T GRCh38
NC_000002.11:g.136564701A>T , CM000664.1:g.136564701A>T GRCh37
NC_000002.10:g.136281171A>T NCBI36
NG_008104.2:g.53039T>A , LRG_338:g.53039T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.4170T>A MANE Select ENSP00000264162.2:p.Tyr1390Ter
ENST00000264162.6:c.4170T>A ENSP00000264162.2:p.Tyr1390Ter
ENST00000452974.1:n.2466T>A ENSP00000391231.1:p.Tyr822Ter
NM_002299.2:c.4170T>A , LRG_338t1:c.4170T>A NP_002290.2:p.Tyr1390Ter
NM_002299.3:c.4170T>A NP_002290.2:p.Tyr1390Ter
XM_017004088.2:c.4170T>A XP_016859577.1:p.Tyr1390Ter
NM_002299.4:c.4170T>A MANE Select NP_002290.2:p.Tyr1390Ter