Canonical Allele Identifier: CA355321471

Gene: LAMP3

Linked Data

• gnomAD v4: 3-183152474-G-C
• MyVariant Identifiers: chr3:g.182870262G>C (hg19) ; chr3:g.183152474G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183152474G>C , CM000665.2:g.183152474G>C	GRCh38
NC_000003.11:g.182870262G>C , CM000665.1:g.182870262G>C	GRCh37
NC_000003.10:g.184352956G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265598.8:c.789C>G MANE Select	ENSP00000265598.3:p.Ile263Met
ENST00000265598.7:c.789C>G	ENSP00000265598.3:p.Ile263Met
ENST00000466939.1:c.717C>G	ENSP00000418912.1:p.Ile239Met
NM_014398.3:c.789C>G	NP_055213.2:p.Ile263Met
XM_005247360.3:c.789C>G	XP_005247417.1:p.Ile263Met
XM_006713586.2:c.717C>G	XP_006713649.1:p.Ile239Met
XM_011512688.1:c.789C>G	XP_011510990.1:p.Ile263Met
XR_924123.1:n.849C>G
XR_924124.1:n.849C>G
XM_005247360.5:c.789C>G	XP_005247417.1:p.Ile263Met
XM_006713586.3:c.717C>G	XP_006713649.1:p.Ile239Met
XM_011512688.2:c.789C>G	XP_011510990.1:p.Ile263Met
XM_024453453.1:c.717C>G	XP_024309221.1:p.Ile239Met
NM_014398.4:c.789C>G MANE Select	NP_055213.2:p.Ile263Met