Canonical Allele Identifier: CA1290830317
Gene: LCT HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

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