Canonical Allele Identifier: CA10612139
Gene: LCT HGNC NCBI

Linked Data

ClinVar Variation Id: 331158
dbSNP Id: rs749324196

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135788094A>G , CM000664.2:g.135788094A>G GRCh38
NC_000002.11:g.136545664A>G , CM000664.1:g.136545664A>G GRCh37
NC_000002.10:g.136262134A>G NCBI36
NG_008104.2:g.72076T>C , LRG_338:g.72076T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.*230T>C MANE Select ENSP00000264162.2:p.=
ENST00000264162.6:c.*230T>C ENSP00000264162.2:p.=
NM_002299.2:c.*230T>C , LRG_338t1:c.*230T>C NP_002290.2:p.=
NM_002299.3:c.*230T>C NP_002290.2:p.=
NM_002299.4:c.*230T>C MANE Select NP_002290.2:p.=