Canonical Allele Identifier: CA2734588296
Gene: LAMA1 HGNC NCBI

Linked Data

dbSNP Id: rs2144184190
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7042068C>T , CM000680.2:g.7042068C>T GRCh38
NC_000018.9:g.7042067C>T , CM000680.1:g.7042067C>T GRCh37
NC_000018.8:g.7032067C>T NCBI36
NG_034251.1:g.80747G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389658.4:c.1261+77G>A MANE Select ENSP00000374309.3:n.1261+77G>A
ENST00000389658.3:c.1261+77G>A ENSP00000374309.3:n.1261+77G>A
ENST00000579014.5:n.2276+77G>A
NM_005559.3:c.1261+77G>A NP_005550.2:n.1261+77G>A
XM_011525655.1:c.1261+77G>A XP_011523957.1:n.1261+77G>A
XM_011525657.1:c.1261+77G>A XP_011523959.1:n.1261+77G>A
XM_011525655.2:c.1261+77G>A XP_011523957.1:n.1261+77G>A
NM_005559.4:c.1261+77G>A MANE Select NP_005550.2:n.1261+77G>A
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