Canonical Allele Identifier: CA144313
Gene: LCT HGNC NCBI

Linked Data

ClinVar Variation Id: 56388
ClinVar RCV Id: RCV000049801
dbSNP Id: rs386833833

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135807214C>T , CM000664.2:g.135807214C>T GRCh38
NC_000002.11:g.136564784C>T , CM000664.1:g.136564784C>T GRCh37
NC_000002.10:g.136281254C>T NCBI36
NG_008104.2:g.52956G>A , LRG_338:g.52956G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.4087G>A MANE Select ENSP00000264162.2:p.Gly1363Ser
ENST00000264162.6:c.4087G>A ENSP00000264162.2:p.Gly1363Ser
ENST00000452974.1:c.2383G>A ENSP00000391231.1:p.Gly795Ser
NM_002299.2:c.4087G>A , LRG_338t1:c.4087G>A NP_002290.2:p.Gly1363Ser
NM_002299.3:c.4087G>A NP_002290.2:p.Gly1363Ser
XM_017004088.2:c.4087G>A XP_016859577.1:p.Gly1363Ser
NM_002299.4:c.4087G>A MANE Select NP_002290.2:p.Gly1363Ser