Canonical Allele Identifier: CA2589889291
Gene: LAMA1 HGNC NCBI

Linked Data

dbSNP Id: rs2144124548
gnomAD v3: 18-7015493-T-G
gnomAD v4: 18-7015493-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7015493T>G , CM000680.2:g.7015493T>G GRCh38
NC_000018.9:g.7015492T>G , CM000680.1:g.7015492T>G GRCh37
NC_000018.8:g.7005492T>G NCBI36
NG_034251.1:g.107322A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389658.4:c.3126+229A>C MANE Select ENSP00000374309.3:n.3126+229A>C
ENST00000389658.3:c.3126+229A>C ENSP00000374309.3:n.3126+229A>C
ENST00000579014.5:n.4141+229A>C
NM_005559.3:c.3126+229A>C NP_005550.2:n.3126+229A>C
XM_011525655.1:c.3126+229A>C XP_011523957.1:n.3126+229A>C
XM_011525656.1:c.1554+229A>C XP_011523958.1:n.1554+229A>C
XM_011525657.1:c.3126+229A>C XP_011523959.1:n.3126+229A>C
XM_011525655.2:c.3126+229A>C XP_011523957.1:n.3126+229A>C
XM_011525656.2:c.1554+229A>C XP_011523958.1:n.1554+229A>C
NM_005559.4:c.3126+229A>C MANE Select NP_005550.2:n.3126+229A>C
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