Canonical Allele Identifier: CA8882431
Gene: LAMA1 HGNC NCBI

Linked Data

dbSNP Id: rs772179115
gnomAD v2: 18-7015890-T-C
gnomAD v4: 18-7015891-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7015891T>C , CM000680.2:g.7015891T>C GRCh38
NC_000018.9:g.7015890T>C , CM000680.1:g.7015890T>C GRCh37
NC_000018.8:g.7005890T>C NCBI36
NG_034251.1:g.106924A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389658.4:c.2990-33A>G MANE Select ENSP00000374309.3:n.2990-33A>G
ENST00000389658.3:c.2990-33A>G ENSP00000374309.3:n.2990-33A>G
ENST00000579014.5:n.4005-33A>G
NM_005559.3:c.2990-33A>G NP_005550.2:n.2990-33A>G
XM_011525655.1:c.2990-33A>G XP_011523957.1:n.2990-33A>G
XM_011525656.1:c.1418-33A>G XP_011523958.1:n.1418-33A>G
XM_011525657.1:c.2990-33A>G XP_011523959.1:n.2990-33A>G
XM_011525655.2:c.2990-33A>G XP_011523957.1:n.2990-33A>G
XM_011525656.2:c.1418-33A>G XP_011523958.1:n.1418-33A>G
NM_005559.4:c.2990-33A>G MANE Select NP_005550.2:n.2990-33A>G