Canonical Allele Identifier: CA10609590
Gene: LAMB3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 295059
ClinVar RCV Id: RCV000266238
dbSNP Id: rs2566

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209615169G>A , CM000663.2:g.209615169G>A GRCh38
NC_000001.10:g.209788514G>A , CM000663.1:g.209788514G>A GRCh37
NC_000001.9:g.207855137G>A NCBI36
NG_007116.1:g.42307C>T

Transcript Alleles

HGVS Amino-acid change
NM_000228.2:c.*102C>T VV NP_000219.2:p.=
NM_001017402.1:c.*102C>T VV NP_001017402.1:p.=
NM_001127641.1:c.*102C>T VV NP_001121113.1:p.=
XM_005273124.3:c.*102C>T XP_005273181.1:p.=
XM_005273124.4:c.*102C>T
XM_017001272.2:c.*102C>T XP_016856761.1:p.=
NM_000228.3:c.*102C>T VV MANE Preferred
ENST00000356082.8:c.*102C>T ENSP00000348384.3:p.=
ENST00000367030.7:c.*102C>T ENSP00000355997.3:p.=
ENST00000391911.5:c.*102C>T ENSP00000375778.1:p.=