Canonical Allele Identifier: CA402064235

Gene: LAMA3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23928749T>G , CM000680.2:g.23928749T>G	GRCh38
NC_000018.9:g.21508713T>G , CM000680.1:g.21508713T>G	GRCh37
NC_000018.8:g.19762711T>G	NCBI36
NG_007853.2:g.244152T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_198129.4:c.8420T>G MANE Select	NP_937762.2:p.Leu2807Ter
ENST00000313654.14:c.8420T>G MANE Select	ENSP00000324532.8:p.Leu2807Ter
NM_000227.6:c.3593T>G MANE Plus Clinical	NP_000218.3:p.Leu1198Ter
ENST00000269217.11:c.3593T>G MANE Plus Clinical	ENSP00000269217.5:p.Leu1198Ter
NM_000227.4:c.3593T>G	NP_000218.3:p.Leu1198Ter
NM_000227.5:c.3593T>G	NP_000218.3:p.Leu1198Ter
NM_001127717.2:c.8252T>G	NP_001121189.2:p.Leu2751Ter
NM_001127717.3:c.8252T>G	NP_001121189.2:p.Leu2751Ter
NM_001127717.4:c.8252T>G	NP_001121189.2:p.Leu2751Ter
NM_001127718.2:c.3425T>G	NP_001121190.2:p.Leu1142Ter
NM_001127718.3:c.3425T>G	NP_001121190.2:p.Leu1142Ter
NM_001127718.4:c.3425T>G	NP_001121190.2:p.Leu1142Ter
NM_198129.2:c.8420T>G	NP_937762.2:p.Leu2807Ter
NM_198129.3:c.8420T>G	NP_937762.2:p.Leu2807Ter
ENST00000269217.10:c.3593T>G	ENSP00000269217.5:p.Leu1198Ter
ENST00000313654.13:c.8420T>G	ENSP00000324532.8:p.Leu2807Ter
ENST00000399516.7:c.8252T>G	ENSP00000382432.2:p.Leu2751Ter
ENST00000586751.5:c.3198T>G
ENST00000587184.5:c.3425T>G	ENSP00000466557.1:p.Leu1142Ter
ENST00000588164.2:c.125T>G	ENSP00000467473.2:p.Leu42Ter
ENST00000588770.5:n.2998T>G
ENST00000649721.1:c.5015T>G	ENSP00000497885.1:p.Leu1672Ter
XM_011525978.1:c.8447T>G	XP_011524280.1:p.Leu2816Ter
XM_011525978.2:c.8447T>G	XP_011524280.1:p.Leu2816Ter
XM_011525979.1:c.8438T>G	XP_011524281.1:p.Leu2813Ter
XM_011525979.2:c.8438T>G	XP_011524281.1:p.Leu2813Ter
XM_011525980.1:c.8429T>G	XP_011524282.1:p.Leu2810Ter
XM_011525980.2:c.8429T>G	XP_011524282.1:p.Leu2810Ter
XM_011525981.1:c.8315T>G	XP_011524283.1:p.Leu2772Ter
XM_011525981.2:c.8315T>G	XP_011524283.1:p.Leu2772Ter
XM_011525982.1:c.8150T>G	XP_011524284.1:p.Leu2717Ter
XM_011525982.2:c.8150T>G	XP_011524284.1:p.Leu2717Ter
XM_017025743.1:c.6299T>G	XP_016881232.1:p.Leu2100Ter
XM_017025744.1:c.3989T>G	XP_016881233.1:p.Leu1330Ter
XR_001753199.1:n.8688T>G