Canonical Allele Identifier: CA344590213

Gene: LAMB3

Linked Data

• dbSNP Id: rs1226891529
• gnomAD v2: 1-209800295-C-T
• gnomAD v4: 1-209626950-C-T
• MyVariant Identifiers: chr1:g.209800295C>T (hg19) ; chr1:g.209626950C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209626950C>T , CM000663.2:g.209626950C>T	GRCh38
NC_000001.10:g.209800295C>T , CM000663.1:g.209800295C>T	GRCh37
NC_000001.9:g.207866918C>T	NCBI36
NG_007116.1:g.30526G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.1514G>A MANE Select	ENSP00000348384.3:p.Gly505Asp
ENST00000356082.8:c.1514G>A	ENSP00000348384.3:p.Gly505Asp
ENST00000367030.7:c.1514G>A	ENSP00000355997.3:p.Gly505Asp
ENST00000391911.5:c.1514G>A	ENSP00000375778.1:p.Gly505Asp
NM_000228.2:c.1514G>A	NP_000219.2:p.Gly505Asp
NM_001017402.1:c.1514G>A	NP_001017402.1:p.Gly505Asp
NM_001127641.1:c.1514G>A	NP_001121113.1:p.Gly505Asp
XM_005273124.3:c.1514G>A	XP_005273181.1:p.Gly505Asp
XM_005273124.4:c.1514G>A	XP_005273181.1:p.Gly505Asp
XM_017001272.2:c.1322G>A	XP_016856761.1:p.Gly441Asp
NM_000228.3:c.1514G>A MANE Select	NP_000219.2:p.Gly505Asp
NM_001017402.2:c.1514G>A	NP_001017402.1:p.Gly505Asp