Canonical Allele Identifier: CA36749836
Gene: LAMB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2263909
ClinVar RCV Id: RCV002798264
dbSNP Id: rs753174535

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209617932C>A , CM000663.2:g.209617932C>A GRCh38
NC_000001.10:g.209791277C>A , CM000663.1:g.209791277C>A GRCh37
NC_000001.9:g.207857900C>A NCBI36
NG_007116.1:g.39544G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356082.9:c.3026G>T MANE Select ENSP00000348384.3:p.Arg1009Leu
ENST00000356082.8:c.3026G>T ENSP00000348384.3:p.Arg1009Leu
ENST00000367030.7:c.3026G>T ENSP00000355997.3:p.Arg1009Leu
ENST00000391911.5:c.3026G>T ENSP00000375778.1:p.Arg1009Leu
ENST00000455193.1:c.233G>T ENSP00000398683.1:p.Arg78Leu
NM_000228.2:c.3026G>T NP_000219.2:p.Arg1009Leu
NM_001017402.1:c.3026G>T NP_001017402.1:p.Arg1009Leu
NM_001127641.1:c.3026G>T NP_001121113.1:p.Arg1009Leu
XM_005273124.3:c.3026G>T XP_005273181.1:p.Arg1009Leu
XM_005273124.4:c.3026G>T XP_005273181.1:p.Arg1009Leu
XM_017001272.2:c.2834G>T XP_016856761.1:p.Arg945Leu
NM_000228.3:c.3026G>T MANE Select NP_000219.2:p.Arg1009Leu
NM_001017402.2:c.3026G>T NP_001017402.1:p.Arg1009Leu