Canonical Allele Identifier: CA2830536024

Gene: LAMP3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183153509C>A , CM000665.2:g.183153509C>A	GRCh38
NC_000003.11:g.182871297C>A , CM000665.1:g.182871297C>A	GRCh37
NC_000003.10:g.184353991C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265598.8:c.759+173G>T MANE Select	ENSP00000265598.3:n.759+173G>T
ENST00000265598.7:c.759+173G>T	ENSP00000265598.3:n.759+173G>T
ENST00000466939.1:c.687+173G>T	ENSP00000418912.1:n.687+173G>T
NM_014398.3:c.759+173G>T	NP_055213.2:n.759+173G>T
XM_005247360.3:c.759+173G>T	XP_005247417.1:n.759+173G>T
XM_006713586.2:c.687+173G>T	XP_006713649.1:n.687+173G>T
XM_011512688.1:c.759+173G>T	XP_011510990.1:n.759+173G>T
XR_924123.1:n.819+173G>T
XR_924124.1:n.819+173G>T
XM_005247360.5:c.759+173G>T	XP_005247417.1:n.759+173G>T
XM_006713586.3:c.687+173G>T	XP_006713649.1:n.687+173G>T
XM_011512688.2:c.759+173G>T	XP_011510990.1:n.759+173G>T
XM_024453453.1:c.687+173G>T	XP_024309221.1:n.687+173G>T
NM_014398.4:c.759+173G>T MANE Select	NP_055213.2:n.759+173G>T