Canonical Allele Identifier: CA273928
Gene: LAMB3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 188764
dbSNP Id: rs201551805

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209625919G>A , CM000663.2:g.209625919G>A GRCh38
NC_000001.10:g.209799264G>A , CM000663.1:g.209799264G>A GRCh37
NC_000001.9:g.207865887G>A NCBI36
NG_007116.1:g.31557C>T

Transcript Alleles

HGVS Amino-acid change
NM_000228.2:c.1705C>T VV NP_000219.2:p.Arg569Ter
NM_001017402.1:c.1705C>T VV NP_001017402.1:p.Arg569Ter
NM_001127641.1:c.1705C>T VV NP_001121113.1:p.Arg569Ter
XM_005273124.3:c.1705C>T XP_005273181.1:p.Arg569Ter
XM_005273124.4:c.1705C>T
XM_017001272.2:c.1513C>T XP_016856761.1:p.Arg505Ter
NM_000228.3:c.1705C>T VV MANE Preferred
ENST00000356082.8:c.1705C>T ENSP00000348384.3:p.Arg569Ter
ENST00000367030.7:c.1705C>T ENSP00000355997.3:p.Arg569Ter
ENST00000391911.5:c.1705C>T ENSP00000375778.1:p.Arg569Ter