Canonical Allele Identifier: CA344589941
Gene: LAMB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209625980C>G , CM000663.2:g.209625980C>G GRCh38
NC_000001.10:g.209799325C>G , CM000663.1:g.209799325C>G GRCh37
NC_000001.9:g.207865948C>G NCBI36
NG_007116.1:g.31496G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356082.9:c.1644G>C MANE Select ENSP00000348384.3:p.Lys548Asn
ENST00000356082.8:c.1644G>C ENSP00000348384.3:p.Lys548Asn
ENST00000367030.7:c.1644G>C ENSP00000355997.3:p.Lys548Asn
ENST00000391911.5:c.1644G>C ENSP00000375778.1:p.Lys548Asn
NM_000228.2:c.1644G>C NP_000219.2:p.Lys548Asn
NM_001017402.1:c.1644G>C NP_001017402.1:p.Lys548Asn
NM_001127641.1:c.1644G>C NP_001121113.1:p.Lys548Asn
XM_005273124.3:c.1644G>C XP_005273181.1:p.Lys548Asn
XM_005273124.4:c.1644G>C XP_005273181.1:p.Lys548Asn
XM_017001272.2:c.1452G>C XP_016856761.1:p.Lys484Asn
NM_000228.3:c.1644G>C MANE Select NP_000219.2:p.Lys548Asn
NM_001017402.2:c.1644G>C NP_001017402.1:p.Lys548Asn