Canonical Allele Identifier: CA429085058
Gene: LCT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.136547223T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135789653T>G , CM000664.2:g.135789653T>G GRCh38
NC_000002.11:g.136547223T>G , CM000664.1:g.136547223T>G GRCh37
NC_000002.10:g.136263693T>G NCBI36
NG_008104.2:g.70517A>C , LRG_338:g.70517A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.5481A>C MANE Select ENSP00000264162.2:p.Ser1827=
ENST00000264162.6:c.5481A>C ENSP00000264162.2:p.Ser1827=
NM_002299.2:c.5481A>C , LRG_338t1:c.5481A>C NP_002290.2:p.Ser1827=
NM_002299.3:c.5481A>C NP_002290.2:p.Ser1827=
NM_002299.4:c.5481A>C MANE Select NP_002290.2:p.Ser1827=