Canonical Allele Identifier: CA1011766223

Gene: LAMB3

Linked Data

• dbSNP Id: rs1666059721
• gnomAD v3: 1-209618321-A-G
• gnomAD v4: 1-209618321-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209618321A>G , CM000663.2:g.209618321A>G	GRCh38
NC_000001.10:g.209791666A>G , CM000663.1:g.209791666A>G	GRCh37
NC_000001.9:g.207858289A>G	NCBI36
NG_007116.1:g.39155T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.2909+131T>C MANE Select	ENSP00000348384.3:n.2909+131T>C
ENST00000356082.8:c.2909+131T>C	ENSP00000348384.3:n.2909+131T>C
ENST00000367030.7:c.2909+131T>C	ENSP00000355997.3:n.2909+131T>C
ENST00000391911.5:c.2909+131T>C	ENSP00000375778.1:n.2909+131T>C
ENST00000455193.1:c.116+131T>C	ENSP00000398683.1:n.116+131T>C
NM_000228.2:c.2909+131T>C	NP_000219.2:n.2909+131T>C
NM_001017402.1:c.2909+131T>C	NP_001017402.1:n.2909+131T>C
NM_001127641.1:c.2909+131T>C	NP_001121113.1:n.2909+131T>C
XM_005273124.3:c.2909+131T>C	XP_005273181.1:n.2909+131T>C
XM_005273124.4:c.2909+131T>C	XP_005273181.1:n.2909+131T>C
XM_017001272.2:c.2717+131T>C	XP_016856761.1:n.2717+131T>C
NM_000228.3:c.2909+131T>C MANE Select	NP_000219.2:n.2909+131T>C
NM_001017402.2:c.2909+131T>C	NP_001017402.1:n.2909+131T>C