Canonical Allele Identifier: CA423032199

Gene: LAMB3

Linked Data

• gnomAD v4: 1-209629744-G-T
• MyVariant Identifiers: chr1:g.209803089G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209629744G>T , CM000663.2:g.209629744G>T	GRCh38
NC_000001.10:g.209803089G>T , CM000663.1:g.209803089G>T	GRCh37
NC_000001.9:g.207869712G>T	NCBI36
NG_007116.1:g.27732C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.1125C>A MANE Select	ENSP00000348384.3:p.Thr375=
ENST00000356082.8:c.1125C>A	ENSP00000348384.3:p.Thr375=
ENST00000367030.7:c.1125C>A	ENSP00000355997.3:p.Thr375=
ENST00000391911.5:c.1125C>A	ENSP00000375778.1:p.Thr375=
NM_000228.2:c.1125C>A	NP_000219.2:p.Thr375=
NM_001017402.1:c.1125C>A	NP_001017402.1:p.Thr375=
NM_001127641.1:c.1125C>A	NP_001121113.1:p.Thr375=
XM_005273124.3:c.1125C>A	XP_005273181.1:p.Thr375=
XM_005273124.4:c.1125C>A	XP_005273181.1:p.Thr375=
XM_017001272.2:c.933C>A	XP_016856761.1:p.Thr311=
NM_000228.3:c.1125C>A MANE Select	NP_000219.2:p.Thr375=
NM_001017402.2:c.1125C>A	NP_001017402.1:p.Thr375=