Canonical Allele Identifier: CA503522753

Gene: LAMA3

Linked Data

• ClinVar Variation Id: 2165694
• ClinVar RCV Id: RCV003084503
• dbSNP Id: rs201759849
• gnomAD v2: 18-21529881-C-G
• gnomAD v4: 18-23949917-C-G
• MyVariant Identifiers: chr18:g.21529881C>G (hg19) ; chr18:g.23949917C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23949917C>G , CM000680.2:g.23949917C>G	GRCh38
NC_000018.9:g.21529881C>G , CM000680.1:g.21529881C>G	GRCh37
NC_000018.8:g.19783879C>G	NCBI36
NG_007853.2:g.265320C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.4677C>G MANE Plus Clinical	ENSP00000269217.5:p.Val1559=
ENST00000313654.14:c.9504C>G MANE Select	ENSP00000324532.8:p.Val3168=
ENST00000649721.1:c.6099C>G	ENSP00000497885.1:p.Val2033=
ENST00000269217.10:c.4677C>G	ENSP00000269217.5:p.Val1559=
ENST00000313654.13:c.9504C>G	ENSP00000324532.8:p.Val3168=
ENST00000399516.7:c.9336C>G	ENSP00000382432.2:p.Val3112=
ENST00000587184.5:c.4509C>G	ENSP00000466557.1:p.Val1503=
ENST00000588004.1:c.25C>G
ENST00000588770.5:n.4082C>G
NM_000227.4:c.4677C>G	NP_000218.3:p.Val1559=
NM_001127717.2:c.9336C>G	NP_001121189.2:p.Val3112=
NM_001127718.2:c.4509C>G	NP_001121190.2:p.Val1503=
NM_198129.2:c.9504C>G	NP_937762.2:p.Val3168=
XM_011525978.1:c.9531C>G	XP_011524280.1:p.Val3177=
XM_011525979.1:c.9522C>G	XP_011524281.1:p.Val3174=
XM_011525980.1:c.9513C>G	XP_011524282.1:p.Val3171=
XM_011525981.1:c.9399C>G	XP_011524283.1:p.Val3133=
XM_011525982.1:c.9234C>G	XP_011524284.1:p.Val3078=
XM_011525978.2:c.9531C>G	XP_011524280.1:p.Val3177=
XM_011525979.2:c.9522C>G	XP_011524281.1:p.Val3174=
XM_011525980.2:c.9513C>G	XP_011524282.1:p.Val3171=
XM_011525981.2:c.9399C>G	XP_011524283.1:p.Val3133=
XM_011525982.2:c.9234C>G	XP_011524284.1:p.Val3078=
XM_017025743.1:c.7383C>G	XP_016881232.1:p.Val2461=
XM_017025744.1:c.5073C>G	XP_016881233.1:p.Val1691=
XR_001753199.1:n.9772C>G
NM_000227.5:c.4677C>G	NP_000218.3:p.Val1559=
NM_001127717.3:c.9336C>G	NP_001121189.2:p.Val3112=
NM_001127718.3:c.4509C>G	NP_001121190.2:p.Val1503=
NM_198129.3:c.9504C>G	NP_937762.2:p.Val3168=
NM_000227.6:c.4677C>G MANE Plus Clinical	NP_000218.3:p.Val1559=
NM_001127717.4:c.9336C>G	NP_001121189.2:p.Val3112=
NM_001127718.4:c.4509C>G	NP_001121190.2:p.Val1503=
NM_198129.4:c.9504C>G MANE Select	NP_937762.2:p.Val3168=