Canonical Allele Identifier: CA1290822750
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs2077520422
gnomAD v4: 2-135789852-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135789852C>T , CM000664.2:g.135789852C>T GRCh38
NC_000002.11:g.136547422C>T , CM000664.1:g.136547422C>T GRCh37
NC_000002.10:g.136263892C>T NCBI36
NG_008104.2:g.70318G>A , LRG_338:g.70318G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.5336-54G>A MANE Select ENSP00000264162.2:n.5336-54G>A
ENST00000264162.6:c.5336-54G>A ENSP00000264162.2:n.5336-54G>A
NM_002299.2:c.5336-54G>A , LRG_338t1:c.5336-54G>A NP_002290.2:n.5336-54G>A
NM_002299.3:c.5336-54G>A NP_002290.2:n.5336-54G>A
NM_002299.4:c.5336-54G>A MANE Select NP_002290.2:n.5336-54G>A
Search 100 bp 5'
Search 100 bp 3'