Canonical Allele Identifier: CA402051876

Gene: LAMA3

Linked Data

• dbSNP Id: rs765118160
• gnomAD v2: 18-21529996-A-G
• gnomAD v3: 18-23950032-A-G
• gnomAD v4: 18-23950032-A-G
• MyVariant Identifiers: chr18:g.21529996A>G (hg19) ; chr18:g.23950032A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23950032A>G , CM000680.2:g.23950032A>G	GRCh38
NC_000018.9:g.21529996A>G , CM000680.1:g.21529996A>G	GRCh37
NC_000018.8:g.19783994A>G	NCBI36
NG_007853.2:g.265435A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.4688A>G MANE Plus Clinical	ENSP00000269217.5:p.His1563Arg
ENST00000313654.14:c.9515A>G MANE Select	ENSP00000324532.8:p.His3172Arg
ENST00000649721.1:c.6110A>G	ENSP00000497885.1:p.His2037Arg
ENST00000269217.10:c.4688A>G	ENSP00000269217.5:p.His1563Arg
ENST00000313654.13:c.9515A>G	ENSP00000324532.8:p.His3172Arg
ENST00000399516.7:c.9347A>G	ENSP00000382432.2:p.His3116Arg
ENST00000587184.5:c.4520A>G	ENSP00000466557.1:p.His1507Arg
ENST00000588004.1:c.36A>G
ENST00000588770.5:n.4093A>G
NM_000227.4:c.4688A>G	NP_000218.3:p.His1563Arg
NM_001127717.2:c.9347A>G	NP_001121189.2:p.His3116Arg
NM_001127718.2:c.4520A>G	NP_001121190.2:p.His1507Arg
NM_198129.2:c.9515A>G	NP_937762.2:p.His3172Arg
XM_011525978.1:c.9542A>G	XP_011524280.1:p.His3181Arg
XM_011525979.1:c.9533A>G	XP_011524281.1:p.His3178Arg
XM_011525980.1:c.9524A>G	XP_011524282.1:p.His3175Arg
XM_011525981.1:c.9410A>G	XP_011524283.1:p.His3137Arg
XM_011525982.1:c.9245A>G	XP_011524284.1:p.His3082Arg
XM_011525978.2:c.9542A>G	XP_011524280.1:p.His3181Arg
XM_011525979.2:c.9533A>G	XP_011524281.1:p.His3178Arg
XM_011525980.2:c.9524A>G	XP_011524282.1:p.His3175Arg
XM_011525981.2:c.9410A>G	XP_011524283.1:p.His3137Arg
XM_011525982.2:c.9245A>G	XP_011524284.1:p.His3082Arg
XM_017025743.1:c.7394A>G	XP_016881232.1:p.His2465Arg
XM_017025744.1:c.5084A>G	XP_016881233.1:p.His1695Arg
XR_001753199.1:n.9783A>G
NM_000227.5:c.4688A>G	NP_000218.3:p.His1563Arg
NM_001127717.3:c.9347A>G	NP_001121189.2:p.His3116Arg
NM_001127718.3:c.4520A>G	NP_001121190.2:p.His1507Arg
NM_198129.3:c.9515A>G	NP_937762.2:p.His3172Arg
NM_000227.6:c.4688A>G MANE Plus Clinical	NP_000218.3:p.His1563Arg
NM_001127717.4:c.9347A>G	NP_001121189.2:p.His3116Arg
NM_001127718.4:c.4520A>G	NP_001121190.2:p.His1507Arg
NM_198129.4:c.9515A>G MANE Select	NP_937762.2:p.His3172Arg