Canonical Allele Identifier: CA348605716
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs2077788718

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135817410C>A , CM000664.2:g.135817410C>A GRCh38
NC_000002.11:g.136574980C>A , CM000664.1:g.136574980C>A GRCh37
NC_000002.10:g.136291450C>A NCBI36
NG_008104.2:g.42760G>T , LRG_338:g.42760G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.1638G>T MANE Select ENSP00000264162.2:p.Met546Ile
ENST00000264162.6:c.1638G>T ENSP00000264162.2:p.Met546Ile
NM_002299.2:c.1638G>T , LRG_338t1:c.1638G>T NP_002290.2:p.Met546Ile
NM_002299.3:c.1638G>T NP_002290.2:p.Met546Ile
XM_017004088.2:c.1638G>T XP_016859577.1:p.Met546Ile
NM_002299.4:c.1638G>T MANE Select NP_002290.2:p.Met546Ile