Canonical Allele Identifier: CA401850645
Gene: LAMA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7015836C>A , CM000680.2:g.7015836C>A GRCh38
NC_000018.9:g.7015835C>A , CM000680.1:g.7015835C>A GRCh37
NC_000018.8:g.7005835C>A NCBI36
NG_034251.1:g.106979G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389658.4:c.3012G>T MANE Select ENSP00000374309.3:p.Gln1004His
ENST00000389658.3:c.3012G>T ENSP00000374309.3:p.Gln1004His
ENST00000579014.5:n.4027G>T
NM_005559.3:c.3012G>T NP_005550.2:p.Gln1004His
XM_011525655.1:c.3012G>T XP_011523957.1:p.Gln1004His
XM_011525656.1:c.1440G>T XP_011523958.1:p.Gln480His
XM_011525657.1:c.3012G>T XP_011523959.1:p.Gln1004His
XM_011525655.2:c.3012G>T XP_011523957.1:p.Gln1004His
XM_011525656.2:c.1440G>T XP_011523958.1:p.Gln480His
NM_005559.4:c.3012G>T MANE Select NP_005550.2:p.Gln1004His