Canonical Allele Identifier: CA348592843
Gene: LCT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.136558259G>T (hg19) chr2:g.135800689G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135800689G>T , CM000664.2:g.135800689G>T GRCh38
NC_000002.11:g.136558259G>T , CM000664.1:g.136558259G>T GRCh37
NC_000002.10:g.136274729G>T NCBI36
NG_008104.2:g.59481C>A , LRG_338:g.59481C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.4784C>A MANE Select ENSP00000264162.2:p.Ser1595Tyr
ENST00000264162.6:c.4784C>A ENSP00000264162.2:p.Ser1595Tyr
ENST00000452974.1:c.2960-2551C>A ENSP00000391231.1:n.2960-2551C>A
NM_002299.2:c.4784C>A , LRG_338t1:c.4784C>A NP_002290.2:p.Ser1595Tyr
NM_002299.3:c.4784C>A NP_002290.2:p.Ser1595Tyr
XM_017004088.2:c.4784C>A XP_016859577.1:p.Ser1595Tyr
NM_002299.4:c.4784C>A MANE Select NP_002290.2:p.Ser1595Tyr
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