Canonical Allele Identifier: CA1036798866
Gene: LCT HGNC NCBI

Linked Data

ClinVar Variation Id: 3008058
ClinVar RCV Id: RCV003866721
dbSNP Id: rs776206943
gnomAD v4: 2-135817322-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135817322C>T , CM000664.2:g.135817322C>T GRCh38
NC_000002.11:g.136574892C>T , CM000664.1:g.136574892C>T GRCh37
NC_000002.10:g.136291362C>T NCBI36
NG_008104.2:g.42848G>A , LRG_338:g.42848G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.1707+19G>A MANE Select ENSP00000264162.2:n.1707+19G>A
ENST00000264162.6:c.1707+19G>A ENSP00000264162.2:n.1707+19G>A
NM_002299.2:c.1707+19G>A , LRG_338t1:c.1707+19G>A NP_002290.2:n.1707+19G>A
NM_002299.3:c.1707+19G>A NP_002290.2:n.1707+19G>A
XM_017004088.2:c.1707+19G>A XP_016859577.1:n.1707+19G>A
NM_002299.4:c.1707+19G>A MANE Select NP_002290.2:n.1707+19G>A
Search 100 bp 5'
Search 100 bp 3'