Canonical Allele Identifier: CA295758019
Gene: LAMA1 HGNC NCBI

Linked Data

dbSNP Id: rs117075450
gnomAD v2: 18-7042085-C-A
gnomAD v3: 18-7042086-C-A
gnomAD v4: 18-7042086-C-A
MyVariant Identifiers: chr18:g.7042085C>A (hg19) chr18:g.7042086C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7042086C>A , CM000680.2:g.7042086C>A GRCh38
NC_000018.9:g.7042085C>A , CM000680.1:g.7042085C>A GRCh37
NC_000018.8:g.7032085C>A NCBI36
NG_034251.1:g.80729G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000389658.4:c.1261+59G>T MANE Select ENSP00000374309.3:n.1261+59G>T
ENST00000389658.3:c.1261+59G>T ENSP00000374309.3:n.1261+59G>T
ENST00000579014.5:n.2276+59G>T
NM_005559.3:c.1261+59G>T NP_005550.2:n.1261+59G>T
XM_011525655.1:c.1261+59G>T XP_011523957.1:n.1261+59G>T
XM_011525657.1:c.1261+59G>T XP_011523959.1:n.1261+59G>T
XM_011525655.2:c.1261+59G>T XP_011523957.1:n.1261+59G>T
NM_005559.4:c.1261+59G>T MANE Select NP_005550.2:n.1261+59G>T
Search 100 bp 5'
Search 100 bp 3'