Canonical Allele Identifier: CA2282706877
Gene: LAMA1 HGNC NCBI

Linked Data

dbSNP Id: rs2058022726
gnomAD v4: 18-7042067-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7042067C>T , CM000680.2:g.7042067C>T GRCh38
NC_000018.9:g.7042066C>T , CM000680.1:g.7042066C>T GRCh37
NC_000018.8:g.7032066C>T NCBI36
NG_034251.1:g.80748G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000389658.4:c.1261+78G>A MANE Select ENSP00000374309.3:n.1261+78G>A
ENST00000389658.3:c.1261+78G>A ENSP00000374309.3:n.1261+78G>A
ENST00000579014.5:n.2276+78G>A
NM_005559.3:c.1261+78G>A NP_005550.2:n.1261+78G>A
XM_011525655.1:c.1261+78G>A XP_011523957.1:n.1261+78G>A
XM_011525657.1:c.1261+78G>A XP_011523959.1:n.1261+78G>A
XM_011525655.2:c.1261+78G>A XP_011523957.1:n.1261+78G>A
NM_005559.4:c.1261+78G>A MANE Select NP_005550.2:n.1261+78G>A