Canonical Allele Identifier: CA8916219

Gene: LAMA3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23899375G>A , CM000680.2:g.23899375G>A	GRCh38
NC_000018.9:g.21479339G>A , CM000680.1:g.21479339G>A	GRCh37
NC_000018.8:g.19733337G>A	NCBI36
NG_007853.2:g.214778G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_198129.4:c.5924G>A MANE Select	NP_937762.2:p.Arg1975His
ENST00000313654.14:c.5924G>A MANE Select	ENSP00000324532.8:p.Arg1975His
NM_000227.6:c.1097G>A MANE Plus Clinical	NP_000218.3:p.Arg366His
ENST00000269217.11:c.1097G>A MANE Plus Clinical	ENSP00000269217.5:p.Arg366His
NM_000227.4:c.1097G>A	NP_000218.3:p.Arg366His
NM_000227.5:c.1097G>A	NP_000218.3:p.Arg366His
NM_001127717.2:c.5836+310G>A	NP_001121189.2:n.5836+310G>A
NM_001127717.3:c.5836+310G>A	NP_001121189.2:n.5836+310G>A
NM_001127717.4:c.5836+310G>A	NP_001121189.2:n.5836+310G>A
NM_001127718.2:c.1009+310G>A	NP_001121190.2:n.1009+310G>A
NM_001127718.3:c.1009+310G>A	NP_001121190.2:n.1009+310G>A
NM_001127718.4:c.1009+310G>A	NP_001121190.2:n.1009+310G>A
NM_198129.2:c.5924G>A	NP_937762.2:p.Arg1975His
NM_198129.3:c.5924G>A	NP_937762.2:p.Arg1975His
ENST00000269217.10:c.1097G>A	ENSP00000269217.5:p.Arg366His
ENST00000313654.13:c.5924G>A	ENSP00000324532.8:p.Arg1975His
ENST00000399516.7:c.5836+310G>A	ENSP00000382432.2:n.5836+310G>A
ENST00000586709.1:n.312G>A
ENST00000586751.5:c.702G>A
ENST00000587184.5:c.1009+310G>A	ENSP00000466557.1:n.1009+310G>A
ENST00000588770.5:n.502G>A
ENST00000649721.1:c.2816G>A	ENSP00000497885.1:p.Arg939His
XM_011525978.1:c.5951G>A	XP_011524280.1:p.Arg1984His
XM_011525978.2:c.5951G>A	XP_011524280.1:p.Arg1984His
XM_011525979.1:c.5942G>A	XP_011524281.1:p.Arg1981His
XM_011525979.2:c.5942G>A	XP_011524281.1:p.Arg1981His
XM_011525980.1:c.5933G>A	XP_011524282.1:p.Arg1978His
XM_011525980.2:c.5933G>A	XP_011524282.1:p.Arg1978His
XM_011525981.1:c.5819G>A	XP_011524283.1:p.Arg1940His
XM_011525981.2:c.5819G>A	XP_011524283.1:p.Arg1940His
XM_011525982.1:c.5951G>A	XP_011524284.1:p.Arg1984His
XM_011525982.2:c.5951G>A	XP_011524284.1:p.Arg1984His
XM_017025743.1:c.3803G>A	XP_016881232.1:p.Arg1268His
XM_017025744.1:c.1493G>A	XP_016881233.1:p.Arg498His
XR_001753199.1:n.6192G>A