Canonical Allele Identifier: CA2640920054
Gene: LAMA1 HGNC NCBI

Linked Data

gnomAD v4: 18-7015575-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7015575T>C , CM000680.2:g.7015575T>C GRCh38
NC_000018.9:g.7015574T>C , CM000680.1:g.7015574T>C GRCh37
NC_000018.8:g.7005574T>C NCBI36
NG_034251.1:g.107240A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389658.4:c.3126+147A>G MANE Select ENSP00000374309.3:n.3126+147A>G
ENST00000389658.3:c.3126+147A>G ENSP00000374309.3:n.3126+147A>G
ENST00000579014.5:n.4141+147A>G
NM_005559.3:c.3126+147A>G NP_005550.2:n.3126+147A>G
XM_011525655.1:c.3126+147A>G XP_011523957.1:n.3126+147A>G
XM_011525656.1:c.1554+147A>G XP_011523958.1:n.1554+147A>G
XM_011525657.1:c.3126+147A>G XP_011523959.1:n.3126+147A>G
XM_011525655.2:c.3126+147A>G XP_011523957.1:n.3126+147A>G
XM_011525656.2:c.1554+147A>G XP_011523958.1:n.1554+147A>G
NM_005559.4:c.3126+147A>G MANE Select NP_005550.2:n.3126+147A>G
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