Canonical Allele Identifier: CA2576450396
Gene: LAMA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7015685C>T , CM000680.2:g.7015685C>T GRCh38
NC_000018.9:g.7015684C>T , CM000680.1:g.7015684C>T GRCh37
NC_000018.8:g.7005684C>T NCBI36
NG_034251.1:g.107130G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000389658.4:c.3126+37G>A MANE Select ENSP00000374309.3:n.3126+37G>A
ENST00000389658.3:c.3126+37G>A ENSP00000374309.3:n.3126+37G>A
ENST00000579014.5:n.4141+37G>A
NM_005559.3:c.3126+37G>A NP_005550.2:n.3126+37G>A
XM_011525655.1:c.3126+37G>A XP_011523957.1:n.3126+37G>A
XM_011525656.1:c.1554+37G>A XP_011523958.1:n.1554+37G>A
XM_011525657.1:c.3126+37G>A XP_011523959.1:n.3126+37G>A
XM_011525655.2:c.3126+37G>A XP_011523957.1:n.3126+37G>A
XM_011525656.2:c.1554+37G>A XP_011523958.1:n.1554+37G>A
NM_005559.4:c.3126+37G>A MANE Select NP_005550.2:n.3126+37G>A
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