Canonical Allele Identifier: CA2640920057
Gene: LAMA1 HGNC NCBI

Linked Data

gnomAD v4: 18-7015577-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7015577G>A , CM000680.2:g.7015577G>A GRCh38
NC_000018.9:g.7015576G>A , CM000680.1:g.7015576G>A GRCh37
NC_000018.8:g.7005576G>A NCBI36
NG_034251.1:g.107238C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000389658.4:c.3126+145C>T MANE Select ENSP00000374309.3:n.3126+145C>T
ENST00000389658.3:c.3126+145C>T ENSP00000374309.3:n.3126+145C>T
ENST00000579014.5:n.4141+145C>T
NM_005559.3:c.3126+145C>T NP_005550.2:n.3126+145C>T
XM_011525655.1:c.3126+145C>T XP_011523957.1:n.3126+145C>T
XM_011525656.1:c.1554+145C>T XP_011523958.1:n.1554+145C>T
XM_011525657.1:c.3126+145C>T XP_011523959.1:n.3126+145C>T
XM_011525655.2:c.3126+145C>T XP_011523957.1:n.3126+145C>T
XM_011525656.2:c.1554+145C>T XP_011523958.1:n.1554+145C>T
NM_005559.4:c.3126+145C>T MANE Select NP_005550.2:n.3126+145C>T