Canonical Allele Identifier: CA423142251
Gene: LAMB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.209797230T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209623885T>G , CM000663.2:g.209623885T>G GRCh38
NC_000001.10:g.209797230T>G , CM000663.1:g.209797230T>G GRCh37
NC_000001.9:g.207863853T>G NCBI36
NG_007116.1:g.33591A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000356082.9:c.2092A>C MANE Select ENSP00000348384.3:p.Arg698=
ENST00000356082.8:c.2092A>C ENSP00000348384.3:p.Arg698=
ENST00000367030.7:c.2092A>C ENSP00000355997.3:p.Arg698=
ENST00000391911.5:c.2092A>C ENSP00000375778.1:p.Arg698=
NM_000228.2:c.2092A>C NP_000219.2:p.Arg698=
NM_001017402.1:c.2092A>C NP_001017402.1:p.Arg698=
NM_001127641.1:c.2092A>C NP_001121113.1:p.Arg698=
XM_005273124.3:c.2092A>C XP_005273181.1:p.Arg698=
XM_005273124.4:c.2092A>C XP_005273181.1:p.Arg698=
XM_017001272.2:c.1900A>C XP_016856761.1:p.Arg634=
NM_000228.3:c.2092A>C MANE Select NP_000219.2:p.Arg698=
NM_001017402.2:c.2092A>C NP_001017402.1:p.Arg698=