Canonical Allele Identifier: CA2650319046

Gene: LAMB3

Linked Data

• gnomAD v4: 1-209615025-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209615025T>G , CM000663.2:g.209615025T>G	GRCh38
NC_000001.10:g.209788370T>G , CM000663.1:g.209788370T>G	GRCh37
NC_000001.9:g.207854993T>G	NCBI36
NG_007116.1:g.42451A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.*246A>C MANE Select	ENSP00000348384.3:n.*246A>C
ENST00000356082.8:c.*246A>C	ENSP00000348384.3:n.*246A>C
ENST00000367030.7:c.*246A>C	ENSP00000355997.3:n.*246A>C
ENST00000391911.5:c.*246A>C	ENSP00000375778.1:n.*246A>C
NM_000228.2:c.*246A>C	NP_000219.2:n.*246A>C
NM_001017402.1:c.*246A>C	NP_001017402.1:n.*246A>C
NM_001127641.1:c.*246A>C	NP_001121113.1:n.*246A>C
XM_005273124.3:c.*246A>C	XP_005273181.1:n.*246A>C
XM_005273124.4:c.*246A>C	XP_005273181.1:n.*246A>C
XM_017001272.2:c.*246A>C	XP_016856761.1:n.*246A>C
NM_000228.3:c.*246A>C MANE Select	NP_000219.2:n.*246A>C
NM_001017402.2:c.*246A>C	NP_001017402.1:n.*246A>C