Canonical Allele Identifier: CA2577107864
Gene: LCT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135807083G>T , CM000664.2:g.135807083G>T GRCh38
NC_000002.11:g.136564653G>T , CM000664.1:g.136564653G>T GRCh37
NC_000002.10:g.136281123G>T NCBI36
NG_008104.2:g.53087C>A , LRG_338:g.53087C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.4173+45C>A MANE Select ENSP00000264162.2:n.4173+45C>A
ENST00000264162.6:c.4173+45C>A ENSP00000264162.2:n.4173+45C>A
ENST00000452974.1:c.2469+45C>A ENSP00000391231.1:n.2469+45C>A
NM_002299.2:c.4173+45C>A , LRG_338t1:c.4173+45C>A NP_002290.2:n.4173+45C>A
NM_002299.3:c.4173+45C>A NP_002290.2:n.4173+45C>A
XM_017004088.2:c.4173+45C>A XP_016859577.1:n.4173+45C>A
NM_002299.4:c.4173+45C>A MANE Select NP_002290.2:n.4173+45C>A
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