Canonical Allele Identifier: CA429086327
Gene: LCT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.136558207C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135800637C>T , CM000664.2:g.135800637C>T GRCh38
NC_000002.11:g.136558207C>T , CM000664.1:g.136558207C>T GRCh37
NC_000002.10:g.136274677C>T NCBI36
NG_008104.2:g.59533G>A , LRG_338:g.59533G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.4836G>A MANE Select ENSP00000264162.2:p.Glu1612=
ENST00000264162.6:c.4836G>A ENSP00000264162.2:p.Glu1612=
ENST00000452974.1:c.2960-2499G>A ENSP00000391231.1:n.2960-2499G>A
NM_002299.2:c.4836G>A , LRG_338t1:c.4836G>A NP_002290.2:p.Glu1612=
NM_002299.3:c.4836G>A NP_002290.2:p.Glu1612=
XM_017004088.2:c.4836G>A XP_016859577.1:p.Glu1612=
NM_002299.4:c.4836G>A MANE Select NP_002290.2:p.Glu1612=