Canonical Allele Identifier: CA348605832
Gene: LCT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.136575029A>T (hg19) chr2:g.135817459A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135817459A>T , CM000664.2:g.135817459A>T GRCh38
NC_000002.11:g.136575029A>T , CM000664.1:g.136575029A>T GRCh37
NC_000002.10:g.136291499A>T NCBI36
NG_008104.2:g.42711T>A , LRG_338:g.42711T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.1589T>A MANE Select ENSP00000264162.2:p.Phe530Tyr
ENST00000264162.6:c.1589T>A ENSP00000264162.2:p.Phe530Tyr
NM_002299.2:c.1589T>A , LRG_338t1:c.1589T>A NP_002290.2:p.Phe530Tyr
NM_002299.3:c.1589T>A NP_002290.2:p.Phe530Tyr
XM_017004088.2:c.1589T>A XP_016859577.1:p.Phe530Tyr
NM_002299.4:c.1589T>A MANE Select NP_002290.2:p.Phe530Tyr
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