Canonical Allele Identifier: CA401836180
Gene: LAMA1 HGNC NCBI

Linked Data

gnomAD v4: 18-7042165-A-T
MyVariant Identifiers: chr18:g.7042164A>T (hg19) chr18:g.7042165A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7042165A>T , CM000680.2:g.7042165A>T GRCh38
NC_000018.9:g.7042164A>T , CM000680.1:g.7042164A>T GRCh37
NC_000018.8:g.7032164A>T NCBI36
NG_034251.1:g.80650T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000389658.4:c.1241T>A MANE Select ENSP00000374309.3:p.Leu414His
ENST00000389658.3:c.1241T>A ENSP00000374309.3:p.Leu414His
ENST00000579014.5:n.2256T>A
NM_005559.3:c.1241T>A NP_005550.2:p.Leu414His
XM_011525655.1:c.1241T>A XP_011523957.1:p.Leu414His
XM_011525657.1:c.1241T>A XP_011523959.1:p.Leu414His
XM_011525655.2:c.1241T>A XP_011523957.1:p.Leu414His
NM_005559.4:c.1241T>A MANE Select NP_005550.2:p.Leu414His
Search 100 bp 5'
Search 100 bp 3'