Canonical Allele Identifier: CA348605871
Gene: LCT HGNC NCBI

Linked Data

ClinVar Variation Id: 1444696
ClinVar RCV Id: RCV001992417
dbSNP Id: rs1289242746
gnomAD v2: 2-136575047-G-C
gnomAD v3: 2-135817477-G-C
gnomAD v4: 2-135817477-G-C
MyVariant Identifiers: chr2:g.136575047G>C (hg19) chr2:g.135817477G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135817477G>C , CM000664.2:g.135817477G>C GRCh38
NC_000002.11:g.136575047G>C , CM000664.1:g.136575047G>C GRCh37
NC_000002.10:g.136291517G>C NCBI36
NG_008104.2:g.42693C>G , LRG_338:g.42693C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.1571C>G MANE Select ENSP00000264162.2:p.Ala524Gly
ENST00000264162.6:c.1571C>G ENSP00000264162.2:p.Ala524Gly
NM_002299.2:c.1571C>G , LRG_338t1:c.1571C>G NP_002290.2:p.Ala524Gly
NM_002299.3:c.1571C>G NP_002290.2:p.Ala524Gly
XM_017004088.2:c.1571C>G XP_016859577.1:p.Ala524Gly
NM_002299.4:c.1571C>G MANE Select NP_002290.2:p.Ala524Gly
Search 100 bp 5'
Search 100 bp 3'