Canonical Allele Identifier: CA423030094
Gene: LAMB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1143455
ClinVar RCV Id: RCV001481627
dbSNP Id: rs1480482096

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209618562A>G , CM000663.2:g.209618562A>G GRCh38
NC_000001.10:g.209791907A>G , CM000663.1:g.209791907A>G GRCh37
NC_000001.9:g.207858530A>G NCBI36
NG_007116.1:g.38914T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000356082.9:c.2799T>C MANE Select ENSP00000348384.3:p.Asn933=
ENST00000356082.8:c.2799T>C ENSP00000348384.3:p.Asn933=
ENST00000367030.7:c.2799T>C ENSP00000355997.3:p.Asn933=
ENST00000391911.5:c.2799T>C ENSP00000375778.1:p.Asn933=
ENST00000455193.1:c.6T>C ENSP00000398683.1:p.Asn2=
NM_000228.2:c.2799T>C NP_000219.2:p.Asn933=
NM_001017402.1:c.2799T>C NP_001017402.1:p.Asn933=
NM_001127641.1:c.2799T>C NP_001121113.1:p.Asn933=
XM_005273124.3:c.2799T>C XP_005273181.1:p.Asn933=
XM_005273124.4:c.2799T>C XP_005273181.1:p.Asn933=
XM_017001272.2:c.2607T>C XP_016856761.1:p.Asn869=
NM_000228.3:c.2799T>C MANE Select NP_000219.2:p.Asn933=
NM_001017402.2:c.2799T>C NP_001017402.1:p.Asn933=