Canonical Allele Identifier: CA348586317
Gene: LCT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135789655A>G , CM000664.2:g.135789655A>G GRCh38
NC_000002.11:g.136547225A>G , CM000664.1:g.136547225A>G GRCh37
NC_000002.10:g.136263695A>G NCBI36
NG_008104.2:g.70515T>C , LRG_338:g.70515T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.5479T>C MANE Select ENSP00000264162.2:p.Ser1827Pro
ENST00000264162.6:c.5479T>C ENSP00000264162.2:p.Ser1827Pro
NM_002299.2:c.5479T>C , LRG_338t1:c.5479T>C NP_002290.2:p.Ser1827Pro
NM_002299.3:c.5479T>C NP_002290.2:p.Ser1827Pro
NM_002299.4:c.5479T>C MANE Select NP_002290.2:p.Ser1827Pro