Canonical Allele Identifier: CA1036798818
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs777783889
gnomAD v3: 2-135817177-T-G
gnomAD v4: 2-135817177-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135817177T>G , CM000664.2:g.135817177T>G GRCh38
NC_000002.11:g.136574747T>G , CM000664.1:g.136574747T>G GRCh37
NC_000002.10:g.136291217T>G NCBI36
NG_008104.2:g.42993A>C , LRG_338:g.42993A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.1707+164A>C MANE Select ENSP00000264162.2:n.1707+164A>C
ENST00000264162.6:c.1707+164A>C ENSP00000264162.2:n.1707+164A>C
NM_002299.2:c.1707+164A>C , LRG_338t1:c.1707+164A>C NP_002290.2:n.1707+164A>C
NM_002299.3:c.1707+164A>C NP_002290.2:n.1707+164A>C
XM_017004088.2:c.1707+164A>C XP_016859577.1:n.1707+164A>C
NM_002299.4:c.1707+164A>C MANE Select NP_002290.2:n.1707+164A>C
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