Canonical Allele Identifier: CA1139767761
Gene: LCT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.[135798055G>T;135804868G>A] , CM000664.2:g.[135798055G>T;135804868G>A] GRCh38
NC_000002.11:g.[136555625G>T;136562438G>A] , CM000664.1:g.[136555625G>T;136562438G>A] GRCh37
NC_000002.10:g.[136272095G>T;136278908G>A] NCBI36
NG_008104.2:g.[55302C>T;62115C>A] , LRG_338:g.[55302C>T;62115C>A]

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.[4363C>T;4950C>A] MANE Select ENSP00000264162.2:p.[Arg1455Cys;Ser1650Arg]
ENST00000264162.6:c.[4363C>T;4950C>A] ENSP00000264162.2:p.[Arg1455Cys;Ser1650Arg]
ENST00000452974.1:c.[2659C>T;3043C>A] ENSP00000391231.1:[p.Arg887Cys;n.3043C>A]
NM_002299.2:c.[4363C>T;4950C>A] , LRG_338t1:c.[4363C>T;4950C>A] NP_002290.2:p.[Arg1455Cys;Ser1650Arg]
NM_002299.3:c.[4363C>T;4950C>A] NP_002290.2:p.[Arg1455Cys;Ser1650Arg]
XM_017004088.2:c.[4363C>T;4950C>A] XP_016859577.1:p.[Arg1455Cys;Ser1650Arg]
NM_002299.4:c.[4363C>T;4950C>A] MANE Select NP_002290.2:p.[Arg1455Cys;Ser1650Arg]