Canonical Allele Identifier: CA8915544

Gene: LAMA3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23857953G>A , CM000680.2:g.23857953G>A	GRCh38
NC_000018.9:g.21437917G>A , CM000680.1:g.21437917G>A	GRCh37
NC_000018.8:g.19691915G>A	NCBI36
NG_007853.2:g.173356G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_198129.4:c.4246G>A MANE Select	NP_937762.2:p.Val1416Met
ENST00000313654.14:c.4246G>A MANE Select	ENSP00000324532.8:p.Val1416Met
NM_001127717.2:c.4246G>A	NP_001121189.2:p.Val1416Met
NM_001127717.3:c.4246G>A	NP_001121189.2:p.Val1416Met
NM_001127717.4:c.4246G>A	NP_001121189.2:p.Val1416Met
NM_198129.2:c.4246G>A	NP_937762.2:p.Val1416Met
NM_198129.3:c.4246G>A	NP_937762.2:p.Val1416Met
ENST00000313654.13:c.4246G>A	ENSP00000324532.8:p.Val1416Met
ENST00000399516.7:c.4246G>A	ENSP00000382432.2:p.Val1416Met
ENST00000649721.1:c.1138G>A	ENSP00000497885.1:p.Val380Met
XM_011525978.1:c.4273G>A	XP_011524280.1:p.Val1425Met
XM_011525978.2:c.4273G>A	XP_011524280.1:p.Val1425Met
XM_011525979.1:c.4264G>A	XP_011524281.1:p.Val1422Met
XM_011525979.2:c.4264G>A	XP_011524281.1:p.Val1422Met
XM_011525980.1:c.4255G>A	XP_011524282.1:p.Val1419Met
XM_011525980.2:c.4255G>A	XP_011524282.1:p.Val1419Met
XM_011525981.1:c.4141G>A	XP_011524283.1:p.Val1381Met
XM_011525981.2:c.4141G>A	XP_011524283.1:p.Val1381Met
XM_011525982.1:c.4273G>A	XP_011524284.1:p.Val1425Met
XM_011525982.2:c.4273G>A	XP_011524284.1:p.Val1425Met
XM_017025743.1:c.2125G>A	XP_016881232.1:p.Val709Met
XM_017025744.1:c.-186G>A	XP_016881233.1:n.-186G>A
XR_001753199.1:n.4514G>A