Canonical Allele Identifier: CA295779922
Gene: LAMA1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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