Canonical Allele Identifier: CA1290830316
Gene: LCT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135807080C= , CM000664.2:g.135807080C= GRCh38
NC_000002.11:g.136564650C= , CM000664.1:g.136564650C= GRCh37
NC_000002.10:g.136281120C= NCBI36
NG_008104.2:g.53090G= , LRG_338:g.53090G=

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.4173+48G= MANE Select ENSP00000264162.2:n.4173+48G=
ENST00000264162.6:c.4173+48G= ENSP00000264162.2:n.4173+48G=
ENST00000452974.1:c.2469+48G= ENSP00000391231.1:n.2469+48G=
NM_002299.2:c.4173+48G= , LRG_338t1:c.4173+48G= NP_002290.2:n.4173+48G=
NM_002299.3:c.4173+48G= NP_002290.2:n.4173+48G=
XM_017004088.2:c.4173+48G= XP_016859577.1:n.4173+48G=
NM_002299.4:c.4173+48G= MANE Select NP_002290.2:n.4173+48G=