Canonical Allele Identifier: CA402045089

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21456368T>A (hg19) ; chr18:g.23876404T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23876404T>A , CM000680.2:g.23876404T>A	GRCh38
NC_000018.9:g.21456368T>A , CM000680.1:g.21456368T>A	GRCh37
NC_000018.8:g.19710366T>A	NCBI36
NG_007853.2:g.191807T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.282T>A MANE Plus Clinical	ENSP00000269217.5:p.Cys94Ter
ENST00000313654.14:c.5109T>A MANE Select	ENSP00000324532.8:p.Cys1703Ter
ENST00000649721.1:c.2001T>A	ENSP00000497885.1:p.Cys667Ter
ENST00000269217.10:c.282T>A	ENSP00000269217.5:p.Cys94Ter
ENST00000313654.13:c.5109T>A	ENSP00000324532.8:p.Cys1703Ter
ENST00000399516.7:c.5109T>A	ENSP00000382432.2:p.Cys1703Ter
ENST00000587184.5:c.282T>A	ENSP00000466557.1:p.Cys94Ter
NM_000227.4:c.282T>A	NP_000218.3:p.Cys94Ter
NM_001127717.2:c.5109T>A	NP_001121189.2:p.Cys1703Ter
NM_001127718.2:c.282T>A	NP_001121190.2:p.Cys94Ter
NM_198129.2:c.5109T>A	NP_937762.2:p.Cys1703Ter
XM_011525978.1:c.5136T>A	XP_011524280.1:p.Cys1712Ter
XM_011525979.1:c.5127T>A	XP_011524281.1:p.Cys1709Ter
XM_011525980.1:c.5118T>A	XP_011524282.1:p.Cys1706Ter
XM_011525981.1:c.5004T>A	XP_011524283.1:p.Cys1668Ter
XM_011525982.1:c.5136T>A	XP_011524284.1:p.Cys1712Ter
XM_011525978.2:c.5136T>A	XP_011524280.1:p.Cys1712Ter
XM_011525979.2:c.5127T>A	XP_011524281.1:p.Cys1709Ter
XM_011525980.2:c.5118T>A	XP_011524282.1:p.Cys1706Ter
XM_011525981.2:c.5004T>A	XP_011524283.1:p.Cys1668Ter
XM_011525982.2:c.5136T>A	XP_011524284.1:p.Cys1712Ter
XM_017025743.1:c.2988T>A	XP_016881232.1:p.Cys996Ter
XM_017025744.1:c.678T>A	XP_016881233.1:p.Cys226Ter
XR_001753199.1:n.5377T>A
NM_000227.5:c.282T>A	NP_000218.3:p.Cys94Ter
NM_001127717.3:c.5109T>A	NP_001121189.2:p.Cys1703Ter
NM_001127718.3:c.282T>A	NP_001121190.2:p.Cys94Ter
NM_198129.3:c.5109T>A	NP_937762.2:p.Cys1703Ter
NM_000227.6:c.282T>A MANE Plus Clinical	NP_000218.3:p.Cys94Ter
NM_001127717.4:c.5109T>A	NP_001121189.2:p.Cys1703Ter
NM_001127718.4:c.282T>A	NP_001121190.2:p.Cys94Ter
NM_198129.4:c.5109T>A MANE Select	NP_937762.2:p.Cys1703Ter