Canonical Allele Identifier: CA914222521
Gene: LAMA1 HGNC NCBI

Linked Data

dbSNP Id: rs1568043135
gnomAD v2: 18-7042083-T-C
gnomAD v3: 18-7042084-T-C
gnomAD v4: 18-7042084-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7042084T>C , CM000680.2:g.7042084T>C GRCh38
NC_000018.9:g.7042083T>C , CM000680.1:g.7042083T>C GRCh37
NC_000018.8:g.7032083T>C NCBI36
NG_034251.1:g.80731A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000389658.4:c.1261+61A>G MANE Select ENSP00000374309.3:n.1261+61A>G
ENST00000389658.3:c.1261+61A>G ENSP00000374309.3:n.1261+61A>G
ENST00000579014.5:n.2276+61A>G
NM_005559.3:c.1261+61A>G NP_005550.2:n.1261+61A>G
XM_011525655.1:c.1261+61A>G XP_011523957.1:n.1261+61A>G
XM_011525657.1:c.1261+61A>G XP_011523959.1:n.1261+61A>G
XM_011525655.2:c.1261+61A>G XP_011523957.1:n.1261+61A>G
NM_005559.4:c.1261+61A>G MANE Select NP_005550.2:n.1261+61A>G
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