Canonical Allele Identifier: CA1375756

Gene: LAMB3

Linked Data

• dbSNP Id: rs750141707
• ExAC: 1:209803875 T / G
• gnomAD v2: 1-209803875-T-G
• MyVariant Identifiers: chr1:g.209803875T>G (hg19) ; chr1:g.209630530T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209630530T>G , CM000663.2:g.209630530T>G	GRCh38
NC_000001.10:g.209803875T>G , CM000663.1:g.209803875T>G	GRCh37
NC_000001.9:g.207870498T>G	NCBI36
NG_007116.1:g.26946A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.943+85A>C MANE Select	ENSP00000348384.3:n.943+85A>C
ENST00000356082.8:c.943+85A>C	ENSP00000348384.3:n.943+85A>C
ENST00000367030.7:c.943+85A>C	ENSP00000355997.3:n.943+85A>C
ENST00000391911.5:c.943+85A>C	ENSP00000375778.1:n.943+85A>C
NM_000228.2:c.943+85A>C	NP_000219.2:n.943+85A>C
NM_001017402.1:c.943+85A>C	NP_001017402.1:n.943+85A>C
NM_001127641.1:c.943+85A>C	NP_001121113.1:n.943+85A>C
XM_005273124.3:c.943+85A>C	XP_005273181.1:n.943+85A>C
XM_005273124.4:c.943+85A>C	XP_005273181.1:n.943+85A>C
XM_017001272.2:c.751+85A>C	XP_016856761.1:n.751+85A>C
NM_000228.3:c.943+85A>C MANE Select	NP_000219.2:n.943+85A>C
NM_001017402.2:c.943+85A>C	NP_001017402.1:n.943+85A>C