Canonical Allele Identifier: CA401836270
Gene: LAMA1 HGNC NCBI

Linked Data

gnomAD v4: 18-7042177-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7042177A>G , CM000680.2:g.7042177A>G GRCh38
NC_000018.9:g.7042176A>G , CM000680.1:g.7042176A>G GRCh37
NC_000018.8:g.7032176A>G NCBI36
NG_034251.1:g.80638T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000389658.4:c.1229T>C MANE Select ENSP00000374309.3:p.Ile410Thr
ENST00000389658.3:c.1229T>C ENSP00000374309.3:p.Ile410Thr
ENST00000579014.5:n.2244T>C
NM_005559.3:c.1229T>C NP_005550.2:p.Ile410Thr
XM_011525655.1:c.1229T>C XP_011523957.1:p.Ile410Thr
XM_011525657.1:c.1229T>C XP_011523959.1:p.Ile410Thr
XM_011525655.2:c.1229T>C XP_011523957.1:p.Ile410Thr
NM_005559.4:c.1229T>C MANE Select NP_005550.2:p.Ile410Thr