Canonical Allele Identifier: CA348605841
Gene: LCT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.136575035G>A (hg19) chr2:g.135817465G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135817465G>A , CM000664.2:g.135817465G>A GRCh38
NC_000002.11:g.136575035G>A , CM000664.1:g.136575035G>A GRCh37
NC_000002.10:g.136291505G>A NCBI36
NG_008104.2:g.42705C>T , LRG_338:g.42705C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.1583C>T MANE Select ENSP00000264162.2:p.Ser528Phe
ENST00000264162.6:c.1583C>T ENSP00000264162.2:p.Ser528Phe
NM_002299.2:c.1583C>T , LRG_338t1:c.1583C>T NP_002290.2:p.Ser528Phe
NM_002299.3:c.1583C>T NP_002290.2:p.Ser528Phe
XM_017004088.2:c.1583C>T XP_016859577.1:p.Ser528Phe
NM_002299.4:c.1583C>T MANE Select NP_002290.2:p.Ser528Phe
Search 100 bp 5'
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