Canonical Allele Identifier: CA401836211
Gene: LAMA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7042169C>G , CM000680.2:g.7042169C>G GRCh38
NC_000018.9:g.7042168C>G , CM000680.1:g.7042168C>G GRCh37
NC_000018.8:g.7032168C>G NCBI36
NG_034251.1:g.80646G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000389658.4:c.1237G>C MANE Select ENSP00000374309.3:p.Asp413His
ENST00000389658.3:c.1237G>C ENSP00000374309.3:p.Asp413His
ENST00000579014.5:n.2252G>C
NM_005559.3:c.1237G>C NP_005550.2:p.Asp413His
XM_011525655.1:c.1237G>C XP_011523957.1:p.Asp413His
XM_011525657.1:c.1237G>C XP_011523959.1:p.Asp413His
XM_011525655.2:c.1237G>C XP_011523957.1:p.Asp413His
NM_005559.4:c.1237G>C MANE Select NP_005550.2:p.Asp413His