Canonical Allele Identifier: CA348605639

Gene: LCT

Linked Data

• gnomAD v4: 2-135817375-G-T
• MyVariant Identifiers: chr2:g.136574945G>T (hg19) ; chr2:g.135817375G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135817375G>T , CM000664.2:g.135817375G>T	GRCh38
NC_000002.11:g.136574945G>T , CM000664.1:g.136574945G>T	GRCh37
NC_000002.10:g.136291415G>T	NCBI36
NG_008104.2:g.42795C>A , LRG_338:g.42795C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264162.7:c.1673C>A MANE Select	ENSP00000264162.2:p.Pro558His
ENST00000264162.6:c.1673C>A	ENSP00000264162.2:p.Pro558His
NM_002299.2:c.1673C>A , LRG_338t1:c.1673C>A	NP_002290.2:p.Pro558His
NM_002299.3:c.1673C>A	NP_002290.2:p.Pro558His
XM_017004088.2:c.1673C>A	XP_016859577.1:p.Pro558His
NM_002299.4:c.1673C>A MANE Select	NP_002290.2:p.Pro558His