Canonical Allele Identifier: CA344590171

Gene: LAMB3

Linked Data

• dbSNP Id: rs1396907168
• gnomAD v2: 1-209800275-T-C
• gnomAD v4: 1-209626930-T-C
• MyVariant Identifiers: chr1:g.209800275T>C (hg19) ; chr1:g.209626930T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209626930T>C , CM000663.2:g.209626930T>C	GRCh38
NC_000001.10:g.209800275T>C , CM000663.1:g.209800275T>C	GRCh37
NC_000001.9:g.207866898T>C	NCBI36
NG_007116.1:g.30546A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.1534A>G MANE Select	ENSP00000348384.3:p.Ser512Gly
ENST00000356082.8:c.1534A>G	ENSP00000348384.3:p.Ser512Gly
ENST00000367030.7:c.1534A>G	ENSP00000355997.3:p.Ser512Gly
ENST00000391911.5:c.1534A>G	ENSP00000375778.1:p.Ser512Gly
NM_000228.2:c.1534A>G	NP_000219.2:p.Ser512Gly
NM_001017402.1:c.1534A>G	NP_001017402.1:p.Ser512Gly
NM_001127641.1:c.1534A>G	NP_001121113.1:p.Ser512Gly
XM_005273124.3:c.1534A>G	XP_005273181.1:p.Ser512Gly
XM_005273124.4:c.1534A>G	XP_005273181.1:p.Ser512Gly
XM_017001272.2:c.1342A>G	XP_016856761.1:p.Ser448Gly
NM_000228.3:c.1534A>G MANE Select	NP_000219.2:p.Ser512Gly
NM_001017402.2:c.1534A>G	NP_001017402.1:p.Ser512Gly