Canonical Allele Identifier: CA348606084
Gene: LCT HGNC NCBI

Linked Data

ClinVar Variation Id: 1476266
ClinVar RCV Id: RCV001977867
dbSNP Id: rs1413876853
gnomAD v2: 2-136575140-G-A
gnomAD v3: 2-135817570-G-A
gnomAD v4: 2-135817570-G-A
MyVariant Identifiers: chr2:g.136575140G>A (hg19) chr2:g.135817570G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135817570G>A , CM000664.2:g.135817570G>A GRCh38
NC_000002.11:g.136575140G>A , CM000664.1:g.136575140G>A GRCh37
NC_000002.10:g.136291610G>A NCBI36
NG_008104.2:g.42600C>T , LRG_338:g.42600C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.1478C>T MANE Select ENSP00000264162.2:p.Ala493Val
ENST00000264162.6:c.1478C>T ENSP00000264162.2:p.Ala493Val
NM_002299.2:c.1478C>T , LRG_338t1:c.1478C>T NP_002290.2:p.Ala493Val
NM_002299.3:c.1478C>T NP_002290.2:p.Ala493Val
XM_017004088.2:c.1478C>T XP_016859577.1:p.Ala493Val
NM_002299.4:c.1478C>T MANE Select NP_002290.2:p.Ala493Val
Search 100 bp 5'
Search 100 bp 3'