Canonical Allele Identifier: CA1375480
Gene: LAMB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1199377
dbSNP Id: rs202063530

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209625897G>A , CM000663.2:g.209625897G>A GRCh38
NC_000001.10:g.209799242G>A , CM000663.1:g.209799242G>A GRCh37
NC_000001.9:g.207865865G>A NCBI36
NG_007116.1:g.31579C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356082.9:c.1727C>T MANE Select ENSP00000348384.3:p.Pro576Leu
ENST00000356082.8:c.1727C>T ENSP00000348384.3:p.Pro576Leu
ENST00000367030.7:c.1727C>T ENSP00000355997.3:p.Pro576Leu
ENST00000391911.5:c.1727C>T ENSP00000375778.1:p.Pro576Leu
NM_000228.2:c.1727C>T NP_000219.2:p.Pro576Leu
NM_001017402.1:c.1727C>T NP_001017402.1:p.Pro576Leu
NM_001127641.1:c.1727C>T NP_001121113.1:p.Pro576Leu
XM_005273124.3:c.1727C>T XP_005273181.1:p.Pro576Leu
XM_005273124.4:c.1727C>T XP_005273181.1:p.Pro576Leu
XM_017001272.2:c.1535C>T XP_016856761.1:p.Pro512Leu
NM_000228.3:c.1727C>T MANE Select NP_000219.2:p.Pro576Leu
NM_001017402.2:c.1727C>T NP_001017402.1:p.Pro576Leu