Canonical Allele Identifier: CA344596048
Gene: LAMB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209634566G>C , CM000663.2:g.209634566G>C GRCh38
NC_000001.10:g.209807911G>C , CM000663.1:g.209807911G>C GRCh37
NC_000001.9:g.207874534G>C NCBI36
NG_007116.1:g.22910C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356082.9:c.445C>G MANE Select ENSP00000348384.3:p.Leu149Val
ENST00000356082.8:c.445C>G ENSP00000348384.3:p.Leu149Val
ENST00000367030.7:c.445C>G ENSP00000355997.3:p.Leu149Val
ENST00000391911.5:c.445C>G ENSP00000375778.1:p.Leu149Val
ENST00000415782.1:c.445C>G ENSP00000388960.1:p.Leu149Val
NM_000228.2:c.445C>G NP_000219.2:p.Leu149Val
NM_001017402.1:c.445C>G NP_001017402.1:p.Leu149Val
NM_001127641.1:c.445C>G NP_001121113.1:p.Leu149Val
XM_005273124.3:c.445C>G XP_005273181.1:p.Leu149Val
XM_005273124.4:c.445C>G XP_005273181.1:p.Leu149Val
XM_017001272.2:c.373-1433C>G XP_016856761.1:n.373-1433C>G
NM_000228.3:c.445C>G MANE Select NP_000219.2:p.Leu149Val
NM_001017402.2:c.445C>G NP_001017402.1:p.Leu149Val