Canonical Allele Identifier: CA14528387
Gene: LAMA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7068463C>G , CM000680.2:g.7068463C>G GRCh38
NC_000018.9:g.7068462C>G , CM000680.1:g.7068462C>G GRCh37
NC_000018.8:g.7058462C>G NCBI36
NG_034251.1:g.54352G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389658.4:c.345+11512G>C MANE Select ENSP00000374309.3:n.345+11512G>C
ENST00000389658.3:c.345+11512G>C ENSP00000374309.3:n.345+11512G>C
ENST00000579014.5:n.384+11512G>C
NM_005559.3:c.345+11512G>C NP_005550.2:n.345+11512G>C
XM_011525655.1:c.345+11512G>C XP_011523957.1:n.345+11512G>C
XM_011525657.1:c.345+11512G>C XP_011523959.1:n.345+11512G>C
XM_011525655.2:c.345+11512G>C XP_011523957.1:n.345+11512G>C
NM_005559.4:c.345+11512G>C MANE Select NP_005550.2:n.345+11512G>C