Canonical Allele Identifier: CA1290829335
Gene: LCT HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.4419C= MANE Select ENSP00000264162.2:p.Tyr1473=
ENST00000264162.6:c.4419C= ENSP00000264162.2:p.Tyr1473=
ENST00000452974.1:c.2715C= ENSP00000391231.1:p.Tyr905=
NM_002299.2:c.4419C= , LRG_338t1:c.4419C= NP_002290.2:p.Tyr1473=
NM_002299.3:c.4419C= NP_002290.2:p.Tyr1473=
XM_017004088.2:c.4419C= XP_016859577.1:p.Tyr1473=
NM_002299.4:c.4419C= MANE Select NP_002290.2:p.Tyr1473=