Canonical Allele Identifier: CA1290834834
Gene: LCT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135817570G= , CM000664.2:g.135817570G= GRCh38
NC_000002.11:g.136575140G= , CM000664.1:g.136575140G= GRCh37
NC_000002.10:g.136291610G= NCBI36
NG_008104.2:g.42600C= , LRG_338:g.42600C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.1478C= MANE Select ENSP00000264162.2:p.Ala493=
ENST00000264162.6:c.1478C= ENSP00000264162.2:p.Ala493=
NM_002299.2:c.1478C= , LRG_338t1:c.1478C= NP_002290.2:p.Ala493=
NM_002299.3:c.1478C= NP_002290.2:p.Ala493=
XM_017004088.2:c.1478C= XP_016859577.1:p.Ala493=
NM_002299.4:c.1478C= MANE Select NP_002290.2:p.Ala493=