Canonical Allele Identifier: CA2650318977

Gene: LAMB3

Linked Data

• gnomAD v4: 1-209614986-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209614986T>C , CM000663.2:g.209614986T>C	GRCh38
NC_000001.10:g.209788331T>C , CM000663.1:g.209788331T>C	GRCh37
NC_000001.9:g.207854954T>C	NCBI36
NG_007116.1:g.42490A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.*285A>G MANE Select	ENSP00000348384.3:n.*285A>G
ENST00000356082.8:c.*285A>G	ENSP00000348384.3:n.*285A>G
ENST00000367030.7:c.*285A>G	ENSP00000355997.3:n.*285A>G
ENST00000391911.5:c.*285A>G	ENSP00000375778.1:n.*285A>G
NM_000228.2:c.*285A>G	NP_000219.2:n.*285A>G
NM_001017402.1:c.*285A>G	NP_001017402.1:n.*285A>G
NM_001127641.1:c.*285A>G	NP_001121113.1:n.*285A>G
XM_005273124.3:c.*285A>G	XP_005273181.1:n.*285A>G
XM_005273124.4:c.*285A>G	XP_005273181.1:n.*285A>G
XM_017001272.2:c.*285A>G	XP_016856761.1:n.*285A>G
NM_000228.3:c.*285A>G MANE Select	NP_000219.2:n.*285A>G
NM_001017402.2:c.*285A>G	NP_001017402.1:n.*285A>G