Canonical Allele Identifier: CA348591010

Gene: LCT

Linked Data

• gnomAD v4: 2-135798117-G-T
• MyVariant Identifiers: chr2:g.136555687G>T (hg19) ; chr2:g.135798117G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135798117G>T , CM000664.2:g.135798117G>T	GRCh38
NC_000002.11:g.136555687G>T , CM000664.1:g.136555687G>T	GRCh37
NC_000002.10:g.136272157G>T	NCBI36
NG_008104.2:g.62053C>A , LRG_338:g.62053C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.4888C>A MANE Select	ENSP00000264162.2:p.His1630Asn
ENST00000264162.6:c.4888C>A	ENSP00000264162.2:p.His1630Asn
ENST00000452974.1:c.2981C>A	ENSP00000391231.1:p.Thr994Lys
NM_002299.2:c.4888C>A , LRG_338t1:c.4888C>A	NP_002290.2:p.His1630Asn
NM_002299.3:c.4888C>A	NP_002290.2:p.His1630Asn
XM_017004088.2:c.4888C>A	XP_016859577.1:p.His1630Asn
NM_002299.4:c.4888C>A MANE Select	NP_002290.2:p.His1630Asn