Canonical Allele Identifier: CA402044898

Gene: LAMA3

Linked Data

• gnomAD v4: 18-23876318-G-T
• MyVariant Identifiers: chr18:g.21456282G>T (hg19) ; chr18:g.23876318G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23876318G>T , CM000680.2:g.23876318G>T	GRCh38
NC_000018.9:g.21456282G>T , CM000680.1:g.21456282G>T	GRCh37
NC_000018.8:g.19710280G>T	NCBI36
NG_007853.2:g.191721G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.196G>T MANE Plus Clinical	ENSP00000269217.5:p.Asp66Tyr
ENST00000313654.14:c.5023G>T MANE Select	ENSP00000324532.8:p.Asp1675Tyr
ENST00000649721.1:c.1915G>T	ENSP00000497885.1:p.Asp639Tyr
ENST00000269217.10:c.196G>T	ENSP00000269217.5:p.Asp66Tyr
ENST00000313654.13:c.5023G>T	ENSP00000324532.8:p.Asp1675Tyr
ENST00000399516.7:c.5023G>T	ENSP00000382432.2:p.Asp1675Tyr
ENST00000587184.5:c.196G>T	ENSP00000466557.1:p.Asp66Tyr
NM_000227.4:c.196G>T	NP_000218.3:p.Asp66Tyr
NM_001127717.2:c.5023G>T	NP_001121189.2:p.Asp1675Tyr
NM_001127718.2:c.196G>T	NP_001121190.2:p.Asp66Tyr
NM_198129.2:c.5023G>T	NP_937762.2:p.Asp1675Tyr
XM_011525978.1:c.5050G>T	XP_011524280.1:p.Asp1684Tyr
XM_011525979.1:c.5041G>T	XP_011524281.1:p.Asp1681Tyr
XM_011525980.1:c.5032G>T	XP_011524282.1:p.Asp1678Tyr
XM_011525981.1:c.4918G>T	XP_011524283.1:p.Asp1640Tyr
XM_011525982.1:c.5050G>T	XP_011524284.1:p.Asp1684Tyr
XM_011525978.2:c.5050G>T	XP_011524280.1:p.Asp1684Tyr
XM_011525979.2:c.5041G>T	XP_011524281.1:p.Asp1681Tyr
XM_011525980.2:c.5032G>T	XP_011524282.1:p.Asp1678Tyr
XM_011525981.2:c.4918G>T	XP_011524283.1:p.Asp1640Tyr
XM_011525982.2:c.5050G>T	XP_011524284.1:p.Asp1684Tyr
XM_017025743.1:c.2902G>T	XP_016881232.1:p.Asp968Tyr
XM_017025744.1:c.592G>T	XP_016881233.1:p.Asp198Tyr
XR_001753199.1:n.5291G>T
NM_000227.5:c.196G>T	NP_000218.3:p.Asp66Tyr
NM_001127717.3:c.5023G>T	NP_001121189.2:p.Asp1675Tyr
NM_001127718.3:c.196G>T	NP_001121190.2:p.Asp66Tyr
NM_198129.3:c.5023G>T	NP_937762.2:p.Asp1675Tyr
NM_000227.6:c.196G>T MANE Plus Clinical	NP_000218.3:p.Asp66Tyr
NM_001127717.4:c.5023G>T	NP_001121189.2:p.Asp1675Tyr
NM_001127718.4:c.196G>T	NP_001121190.2:p.Asp66Tyr
NM_198129.4:c.5023G>T MANE Select	NP_937762.2:p.Asp1675Tyr