Canonical Allele Identifier: CA423029903

Gene: LAMB3

Linked Data

• dbSNP Id: rs1164331313
• gnomAD v2: 1-209791808-A-G
• gnomAD v4: 1-209618463-A-G
• MyVariant Identifiers: chr1:g.209791808A>G (hg19) ; chr1:g.209618463A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209618463A>G , CM000663.2:g.209618463A>G	GRCh38
NC_000001.10:g.209791808A>G , CM000663.1:g.209791808A>G	GRCh37
NC_000001.9:g.207858431A>G	NCBI36
NG_007116.1:g.39013T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.2898T>C MANE Select	ENSP00000348384.3:p.Ala966=
ENST00000356082.8:c.2898T>C	ENSP00000348384.3:p.Ala966=
ENST00000367030.7:c.2898T>C	ENSP00000355997.3:p.Ala966=
ENST00000391911.5:c.2898T>C	ENSP00000375778.1:p.Ala966=
ENST00000455193.1:c.105T>C	ENSP00000398683.1:p.Ala35=
NM_000228.2:c.2898T>C	NP_000219.2:p.Ala966=
NM_001017402.1:c.2898T>C	NP_001017402.1:p.Ala966=
NM_001127641.1:c.2898T>C	NP_001121113.1:p.Ala966=
XM_005273124.3:c.2898T>C	XP_005273181.1:p.Ala966=
XM_005273124.4:c.2898T>C	XP_005273181.1:p.Ala966=
XM_017001272.2:c.2706T>C	XP_016856761.1:p.Ala902=
NM_000228.3:c.2898T>C MANE Select	NP_000219.2:p.Ala966=
NM_001017402.2:c.2898T>C	NP_001017402.1:p.Ala966=