Canonical Allele Identifier: CA348586990
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs1187259945
gnomAD v3: 2-135789762-A-G
gnomAD v4: 2-135789762-A-G
MyVariant Identifiers: chr2:g.136547332A>G (hg19) chr2:g.135789762A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135789762A>G , CM000664.2:g.135789762A>G GRCh38
NC_000002.11:g.136547332A>G , CM000664.1:g.136547332A>G GRCh37
NC_000002.10:g.136263802A>G NCBI36
NG_008104.2:g.70408T>C , LRG_338:g.70408T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.5372T>C MANE Select ENSP00000264162.2:p.Val1791Ala
ENST00000264162.6:c.5372T>C ENSP00000264162.2:p.Val1791Ala
NM_002299.2:c.5372T>C , LRG_338t1:c.5372T>C NP_002290.2:p.Val1791Ala
NM_002299.3:c.5372T>C NP_002290.2:p.Val1791Ala
NM_002299.4:c.5372T>C MANE Select NP_002290.2:p.Val1791Ala
Search 100 bp 5'
Search 100 bp 3'