Canonical Allele Identifier: CA2640922833
Gene: LAMA1 HGNC NCBI

Linked Data

gnomAD v4: 18-7042075-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7042075T>A , CM000680.2:g.7042075T>A GRCh38
NC_000018.9:g.7042074T>A , CM000680.1:g.7042074T>A GRCh37
NC_000018.8:g.7032074T>A NCBI36
NG_034251.1:g.80740A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000389658.4:c.1261+70A>T MANE Select ENSP00000374309.3:n.1261+70A>T
ENST00000389658.3:c.1261+70A>T ENSP00000374309.3:n.1261+70A>T
ENST00000579014.5:n.2276+70A>T
NM_005559.3:c.1261+70A>T NP_005550.2:n.1261+70A>T
XM_011525655.1:c.1261+70A>T XP_011523957.1:n.1261+70A>T
XM_011525657.1:c.1261+70A>T XP_011523959.1:n.1261+70A>T
XM_011525655.2:c.1261+70A>T XP_011523957.1:n.1261+70A>T
NM_005559.4:c.1261+70A>T MANE Select NP_005550.2:n.1261+70A>T