Canonical Allele Identifier: CA355321407

Gene: LAMP3

Linked Data

• MyVariant Identifiers: chr3:g.182870230C>A (hg19) ; chr3:g.183152442C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183152442C>A , CM000665.2:g.183152442C>A	GRCh38
NC_000003.11:g.182870230C>A , CM000665.1:g.182870230C>A	GRCh37
NC_000003.10:g.184352924C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265598.8:c.821G>T MANE Select	ENSP00000265598.3:p.Cys274Phe
ENST00000265598.7:c.821G>T	ENSP00000265598.3:p.Cys274Phe
ENST00000466939.1:c.749G>T	ENSP00000418912.1:p.Cys250Phe
NM_014398.3:c.821G>T	NP_055213.2:p.Cys274Phe
XM_005247360.3:c.821G>T	XP_005247417.1:p.Cys274Phe
XM_006713586.2:c.749G>T	XP_006713649.1:p.Cys250Phe
XM_011512688.1:c.821G>T	XP_011510990.1:p.Cys274Phe
XR_924123.1:n.881G>T
XR_924124.1:n.881G>T
XM_005247360.5:c.821G>T	XP_005247417.1:p.Cys274Phe
XM_006713586.3:c.749G>T	XP_006713649.1:p.Cys250Phe
XM_011512688.2:c.821G>T	XP_011510990.1:p.Cys274Phe
XM_024453453.1:c.749G>T	XP_024309221.1:p.Cys250Phe
NM_014398.4:c.821G>T MANE Select	NP_055213.2:p.Cys274Phe