Canonical Allele Identifier: CA1888576
Gene: LCT HGNC NCBI

Linked Data

ClinVar Variation Id: 331207
dbSNP Id: rs3754689

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135833176C>T , CM000664.2:g.135833176C>T GRCh38
NC_000002.11:g.136590746C>T , CM000664.1:g.136590746C>T GRCh37
NC_000002.10:g.136307216C>T NCBI36
NG_008104.2:g.26994G>A , LRG_338:g.26994G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.655G>A MANE Select ENSP00000264162.2:p.Val219Ile
ENST00000264162.6:c.655G>A ENSP00000264162.2:p.Val219Ile
NM_002299.2:c.655G>A , LRG_338t1:c.655G>A NP_002290.2:p.Val219Ile
NM_002299.3:c.655G>A NP_002290.2:p.Val219Ile
XM_017004088.2:c.655G>A XP_016859577.1:p.Val219Ile
NM_002299.4:c.655G>A MANE Select NP_002290.2:p.Val219Ile