Canonical Allele Identifier: CA423142385
Gene: LAMB3 HGNC NCBI

Linked Data

dbSNP Id: rs2102416388
MyVariant Identifiers: chr1:g.209797267A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209623922A>C , CM000663.2:g.209623922A>C GRCh38
NC_000001.10:g.209797267A>C , CM000663.1:g.209797267A>C GRCh37
NC_000001.9:g.207863890A>C NCBI36
NG_007116.1:g.33554T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356082.9:c.2055T>G MANE Select ENSP00000348384.3:p.Leu685=
ENST00000356082.8:c.2055T>G ENSP00000348384.3:p.Leu685=
ENST00000367030.7:c.2055T>G ENSP00000355997.3:p.Leu685=
ENST00000391911.5:c.2055T>G ENSP00000375778.1:p.Leu685=
NM_000228.2:c.2055T>G NP_000219.2:p.Leu685=
NM_001017402.1:c.2055T>G NP_001017402.1:p.Leu685=
NM_001127641.1:c.2055T>G NP_001121113.1:p.Leu685=
XM_005273124.3:c.2055T>G XP_005273181.1:p.Leu685=
XM_005273124.4:c.2055T>G XP_005273181.1:p.Leu685=
XM_017001272.2:c.1863T>G XP_016856761.1:p.Leu621=
NM_000228.3:c.2055T>G MANE Select NP_000219.2:p.Leu685=
NM_001017402.2:c.2055T>G NP_001017402.1:p.Leu685=