Canonical Allele Identifier: CA423032648

Gene: LAMB3

Linked Data

• dbSNP Id: rs2102434595
• gnomAD v4: 1-209632679-G-C
• MyVariant Identifiers: chr1:g.209806024G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209632679G>C , CM000663.2:g.209632679G>C	GRCh38
NC_000001.10:g.209806024G>C , CM000663.1:g.209806024G>C	GRCh37
NC_000001.9:g.207872647G>C	NCBI36
NG_007116.1:g.24797C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.726C>G MANE Select	ENSP00000348384.3:p.Ser242=
ENST00000356082.8:c.726C>G	ENSP00000348384.3:p.Ser242=
ENST00000367030.7:c.726C>G	ENSP00000355997.3:p.Ser242=
ENST00000391911.5:c.726C>G	ENSP00000375778.1:p.Ser242=
NM_000228.2:c.726C>G	NP_000219.2:p.Ser242=
NM_001017402.1:c.726C>G	NP_001017402.1:p.Ser242=
NM_001127641.1:c.726C>G	NP_001121113.1:p.Ser242=
XM_005273124.3:c.726C>G	XP_005273181.1:p.Ser242=
XM_005273124.4:c.726C>G	XP_005273181.1:p.Ser242=
XM_017001272.2:c.534C>G	XP_016856761.1:p.Ser178=
NM_000228.3:c.726C>G MANE Select	NP_000219.2:p.Ser242=
NM_001017402.2:c.726C>G	NP_001017402.1:p.Ser242=