Canonical Allele Identifier: CA344584707
Gene: LAMB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209617936G>T , CM000663.2:g.209617936G>T GRCh38
NC_000001.10:g.209791281G>T , CM000663.1:g.209791281G>T GRCh37
NC_000001.9:g.207857904G>T NCBI36
NG_007116.1:g.39540C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356082.9:c.3022C>A MANE Select ENSP00000348384.3:p.Leu1008Ile
ENST00000356082.8:c.3022C>A ENSP00000348384.3:p.Leu1008Ile
ENST00000367030.7:c.3022C>A ENSP00000355997.3:p.Leu1008Ile
ENST00000391911.5:c.3022C>A ENSP00000375778.1:p.Leu1008Ile
ENST00000455193.1:c.229C>A ENSP00000398683.1:p.Leu77Ile
NM_000228.2:c.3022C>A NP_000219.2:p.Leu1008Ile
NM_001017402.1:c.3022C>A NP_001017402.1:p.Leu1008Ile
NM_001127641.1:c.3022C>A NP_001121113.1:p.Leu1008Ile
XM_005273124.3:c.3022C>A XP_005273181.1:p.Leu1008Ile
XM_005273124.4:c.3022C>A XP_005273181.1:p.Leu1008Ile
XM_017001272.2:c.2830C>A XP_016856761.1:p.Leu944Ile
NM_000228.3:c.3022C>A MANE Select NP_000219.2:p.Leu1008Ile
NM_001017402.2:c.3022C>A NP_001017402.1:p.Leu1008Ile