Canonical Allele Identifier: CA203919

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 203994
• ClinVar RCV Id: RCV000186216
• dbSNP Id: rs796051883
• MyVariant Identifiers: chr1:g.209823359A>C (hg19) ; chr1:g.209650014A>C (hg38)
• PubMed: PMID:25363768 ; PMID:27148569

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209650014A>C , CM000663.2:g.209650014A>C	GRCh38
NC_000001.10:g.209823359A>C , CM000663.1:g.209823359A>C	GRCh37
NC_000001.9:g.207889982A>C	NCBI36
NG_007116.1:g.7462T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.133T>G MANE Select	ENSP00000348384.3:p.Ser45Ala
ENST00000356082.8:c.133T>G	ENSP00000348384.3:p.Ser45Ala
ENST00000367030.7:c.133T>G	ENSP00000355997.3:p.Ser45Ala
ENST00000391911.5:c.133T>G	ENSP00000375778.1:p.Ser45Ala
ENST00000415782.1:c.133T>G	ENSP00000388960.1:p.Ser45Ala
NM_000228.2:c.133T>G	NP_000219.2:p.Ser45Ala
NM_001017402.1:c.133T>G	NP_001017402.1:p.Ser45Ala
NM_001127641.1:c.133T>G	NP_001121113.1:p.Ser45Ala
XM_005273124.3:c.133T>G	XP_005273181.1:p.Ser45Ala
XM_005273124.4:c.133T>G	XP_005273181.1:p.Ser45Ala
XM_017001272.2:c.133T>G	XP_016856761.1:p.Ser45Ala
NM_000228.3:c.133T>G MANE Select	NP_000219.2:p.Ser45Ala
NM_001017402.2:c.133T>G	NP_001017402.1:p.Ser45Ala