Canonical Allele Identifier: CA429203324
Gene: LCT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.136564716T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135807146T>G , CM000664.2:g.135807146T>G GRCh38
NC_000002.11:g.136564716T>G , CM000664.1:g.136564716T>G GRCh37
NC_000002.10:g.136281186T>G NCBI36
NG_008104.2:g.53024A>C , LRG_338:g.53024A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.4155A>C MANE Select ENSP00000264162.2:p.Ala1385=
ENST00000264162.6:c.4155A>C ENSP00000264162.2:p.Ala1385=
ENST00000452974.1:c.2451A>C ENSP00000391231.1:p.Ala817=
NM_002299.2:c.4155A>C , LRG_338t1:c.4155A>C NP_002290.2:p.Ala1385=
NM_002299.3:c.4155A>C NP_002290.2:p.Ala1385=
XM_017004088.2:c.4155A>C XP_016859577.1:p.Ala1385=
NM_002299.4:c.4155A>C MANE Select NP_002290.2:p.Ala1385=