Canonical Allele Identifier: CA1887741
Gene: LCT HGNC NCBI

Linked Data

ClinVar Variation Id: 331168
dbSNP Id: rs2322659

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135798089T>C , CM000664.2:g.135798089T>C GRCh38
NC_000002.11:g.136555659T>C , CM000664.1:g.136555659T>C GRCh37
NC_000002.10:g.136272129T>C NCBI36
NG_008104.2:g.62081A>G , LRG_338:g.62081A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.4916A>G MANE Select ENSP00000264162.2:p.Asn1639Ser
ENST00000264162.6:c.4916A>G ENSP00000264162.2:p.Asn1639Ser
ENST00000452974.1:n.3009A>G ENSP00000391231.1:p.Gln1003=
NM_002299.2:c.4916A>G , LRG_338t1:c.4916A>G NP_002290.2:p.Asn1639Ser
NM_002299.3:c.4916A>G NP_002290.2:p.Asn1639Ser
XM_017004088.2:c.4916A>G XP_016859577.1:p.Asn1639Ser
NM_002299.4:c.4916A>G MANE Select NP_002290.2:p.Asn1639Ser