Canonical Allele Identifier: CA348606305
Gene: LCT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.136575237A>C (hg19) chr2:g.135817667A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135817667A>C , CM000664.2:g.135817667A>C GRCh38
NC_000002.11:g.136575237A>C , CM000664.1:g.136575237A>C GRCh37
NC_000002.10:g.136291707A>C NCBI36
NG_008104.2:g.42503T>G , LRG_338:g.42503T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.1381T>G MANE Select ENSP00000264162.2:p.Phe461Val
ENST00000264162.6:c.1381T>G ENSP00000264162.2:p.Phe461Val
NM_002299.2:c.1381T>G , LRG_338t1:c.1381T>G NP_002290.2:p.Phe461Val
NM_002299.3:c.1381T>G NP_002290.2:p.Phe461Val
XM_017004088.2:c.1381T>G XP_016859577.1:p.Phe461Val
NM_002299.4:c.1381T>G MANE Select NP_002290.2:p.Phe461Val
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