Canonical Allele Identifier: CA757453321
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs1210533766
gnomAD v4: 2-135787924-G-T
MyVariant Identifiers: chr2:g.136545494G>T (hg19) chr2:g.135787924G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135787924G>T , CM000664.2:g.135787924G>T GRCh38
NC_000002.11:g.136545494G>T , CM000664.1:g.136545494G>T GRCh37
NC_000002.10:g.136261964G>T NCBI36
NG_008104.2:g.72246C>A , LRG_338:g.72246C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.*400C>A MANE Select ENSP00000264162.2:n.*400C>A
ENST00000264162.6:c.*400C>A ENSP00000264162.2:n.*400C>A
NM_002299.2:c.*400C>A , LRG_338t1:c.*400C>A NP_002290.2:n.*400C>A
NM_002299.3:c.*400C>A NP_002290.2:n.*400C>A
NM_002299.4:c.*400C>A MANE Select NP_002290.2:n.*400C>A
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