Canonical Allele Identifier: CA2640922843
Gene: LAMA1 HGNC NCBI

Linked Data

gnomAD v4: 18-7042081-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7042081A>C , CM000680.2:g.7042081A>C GRCh38
NC_000018.9:g.7042080A>C , CM000680.1:g.7042080A>C GRCh37
NC_000018.8:g.7032080A>C NCBI36
NG_034251.1:g.80734T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000389658.4:c.1261+64T>G MANE Select ENSP00000374309.3:n.1261+64T>G
ENST00000389658.3:c.1261+64T>G ENSP00000374309.3:n.1261+64T>G
ENST00000579014.5:n.2276+64T>G
NM_005559.3:c.1261+64T>G NP_005550.2:n.1261+64T>G
XM_011525655.1:c.1261+64T>G XP_011523957.1:n.1261+64T>G
XM_011525657.1:c.1261+64T>G XP_011523959.1:n.1261+64T>G
XM_011525655.2:c.1261+64T>G XP_011523957.1:n.1261+64T>G
NM_005559.4:c.1261+64T>G MANE Select NP_005550.2:n.1261+64T>G