Canonical Allele Identifier: CA401850546
Gene: LAMA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7015790T>C , CM000680.2:g.7015790T>C GRCh38
NC_000018.9:g.7015789T>C , CM000680.1:g.7015789T>C GRCh37
NC_000018.8:g.7005789T>C NCBI36
NG_034251.1:g.107025A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389658.4:c.3058A>G MANE Select ENSP00000374309.3:p.Thr1020Ala
ENST00000389658.3:c.3058A>G ENSP00000374309.3:p.Thr1020Ala
ENST00000579014.5:n.4073A>G
NM_005559.3:c.3058A>G NP_005550.2:p.Thr1020Ala
XM_011525655.1:c.3058A>G XP_011523957.1:p.Thr1020Ala
XM_011525656.1:c.1486A>G XP_011523958.1:p.Thr496Ala
XM_011525657.1:c.3058A>G XP_011523959.1:p.Thr1020Ala
XM_011525655.2:c.3058A>G XP_011523957.1:p.Thr1020Ala
XM_011525656.2:c.1486A>G XP_011523958.1:p.Thr496Ala
NM_005559.4:c.3058A>G MANE Select NP_005550.2:p.Thr1020Ala