Canonical Allele Identifier: CA987524486
Gene: LAMA1 HGNC NCBI

Linked Data

gnomAD v3: 18-7015625-C-A
gnomAD v4: 18-7015625-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7015625C>A , CM000680.2:g.7015625C>A GRCh38
NC_000018.9:g.7015624C>A , CM000680.1:g.7015624C>A GRCh37
NC_000018.8:g.7005624C>A NCBI36
NG_034251.1:g.107190G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000389658.4:c.3126+97G>T MANE Select ENSP00000374309.3:n.3126+97G>T
ENST00000389658.3:c.3126+97G>T ENSP00000374309.3:n.3126+97G>T
ENST00000579014.5:n.4141+97G>T
NM_005559.3:c.3126+97G>T NP_005550.2:n.3126+97G>T
XM_011525655.1:c.3126+97G>T XP_011523957.1:n.3126+97G>T
XM_011525656.1:c.1554+97G>T XP_011523958.1:n.1554+97G>T
XM_011525657.1:c.3126+97G>T XP_011523959.1:n.3126+97G>T
XM_011525655.2:c.3126+97G>T XP_011523957.1:n.3126+97G>T
XM_011525656.2:c.1554+97G>T XP_011523958.1:n.1554+97G>T
NM_005559.4:c.3126+97G>T MANE Select NP_005550.2:n.3126+97G>T