Canonical Allele Identifier: CA1141188135
Community Standard Title: NM_000228.3(LAMB3):c.727C= (p.Gln243=)
Gene: LAMB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209632678G= , CM000663.2:g.209632678G= GRCh38
NC_000001.10:g.209806023G= , CM000663.1:g.209806023G= GRCh37
NC_000001.9:g.207872646G= NCBI36
NG_007116.1:g.24798C=

Transcript Alleles

HGVS Amino-acid Change
NM_000228.3:c.727C= MANE Select NP_000219.2:p.Gln243=
ENST00000356082.9:c.727C= MANE Select ENSP00000348384.3:p.Gln243=
NM_000228.2:c.727C= NP_000219.2:p.Gln243=
NM_001017402.1:c.727C= NP_001017402.1:p.Gln243=
NM_001017402.2:c.727C= NP_001017402.1:p.Gln243=
NM_001127641.1:c.727C= NP_001121113.1:p.Gln243=
ENST00000356082.8:c.727C= ENSP00000348384.3:p.Gln243=
ENST00000367030.7:c.727C= ENSP00000355997.3:p.Gln243=
ENST00000391911.5:c.727C= ENSP00000375778.1:p.Gln243=
XM_005273124.3:c.727C= XP_005273181.1:p.Gln243=
XM_005273124.4:c.727C= XP_005273181.1:p.Gln243=
XM_017001272.2:c.535C= XP_016856761.1:p.Gln179=