Canonical Allele Identifier: CA987524490
Gene: LAMA1 HGNC NCBI

Linked Data

gnomAD v3: 18-7015627-G-T
gnomAD v4: 18-7015627-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7015627G>T , CM000680.2:g.7015627G>T GRCh38
NC_000018.9:g.7015626G>T , CM000680.1:g.7015626G>T GRCh37
NC_000018.8:g.7005626G>T NCBI36
NG_034251.1:g.107188C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000389658.4:c.3126+95C>A MANE Select ENSP00000374309.3:n.3126+95C>A
ENST00000389658.3:c.3126+95C>A ENSP00000374309.3:n.3126+95C>A
ENST00000579014.5:n.4141+95C>A
NM_005559.3:c.3126+95C>A NP_005550.2:n.3126+95C>A
XM_011525655.1:c.3126+95C>A XP_011523957.1:n.3126+95C>A
XM_011525656.1:c.1554+95C>A XP_011523958.1:n.1554+95C>A
XM_011525657.1:c.3126+95C>A XP_011523959.1:n.3126+95C>A
XM_011525655.2:c.3126+95C>A XP_011523957.1:n.3126+95C>A
XM_011525656.2:c.1554+95C>A XP_011523958.1:n.1554+95C>A
NM_005559.4:c.3126+95C>A MANE Select NP_005550.2:n.3126+95C>A
Search 100 bp 5'
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