Canonical Allele Identifier: CA2580583233

Gene: LAMB3

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000228.3:c.*102C>A MANE Select	NP_000219.2:n.*102C>A
ENST00000356082.9:c.*102C>A MANE Select	ENSP00000348384.3:n.*102C>A
NM_000228.2:c.*102C>A	NP_000219.2:n.*102C>A
NM_001017402.1:c.*102C>A	NP_001017402.1:n.*102C>A
NM_001017402.2:c.*102C>A	NP_001017402.1:n.*102C>A
NM_001127641.1:c.*102C>A	NP_001121113.1:n.*102C>A
ENST00000356082.8:c.*102C>A	ENSP00000348384.3:n.*102C>A
ENST00000367030.7:c.*102C>A	ENSP00000355997.3:n.*102C>A
ENST00000391911.5:c.*102C>A	ENSP00000375778.1:n.*102C>A
XM_005273124.3:c.*102C>A	XP_005273181.1:n.*102C>A
XM_005273124.4:c.*102C>A	XP_005273181.1:n.*102C>A
XM_017001272.2:c.*102C>A	XP_016856761.1:n.*102C>A