Canonical Allele Identifier: CA8915715

Gene: LAMA3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23867900C>T , CM000680.2:g.23867900C>T	GRCh38
NC_000018.9:g.21447864C>T , CM000680.1:g.21447864C>T	GRCh37
NC_000018.8:g.19701862C>T	NCBI36
NG_007853.2:g.183303C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_198129.4:c.4750C>T MANE Select	NP_937762.2:p.Arg1584Ter
ENST00000313654.14:c.4750C>T MANE Select	ENSP00000324532.8:p.Arg1584Ter
NM_001127717.2:c.4750C>T	NP_001121189.2:p.Arg1584Ter
NM_001127717.3:c.4750C>T	NP_001121189.2:p.Arg1584Ter
NM_001127717.4:c.4750C>T	NP_001121189.2:p.Arg1584Ter
NM_198129.2:c.4750C>T	NP_937762.2:p.Arg1584Ter
NM_198129.3:c.4750C>T	NP_937762.2:p.Arg1584Ter
ENST00000313654.13:c.4750C>T	ENSP00000324532.8:p.Arg1584Ter
ENST00000399516.7:c.4750C>T	ENSP00000382432.2:p.Arg1584Ter
ENST00000649721.1:c.1642C>T	ENSP00000497885.1:p.Arg548Ter
XM_011525978.1:c.4777C>T	XP_011524280.1:p.Arg1593Ter
XM_011525978.2:c.4777C>T	XP_011524280.1:p.Arg1593Ter
XM_011525979.1:c.4768C>T	XP_011524281.1:p.Arg1590Ter
XM_011525979.2:c.4768C>T	XP_011524281.1:p.Arg1590Ter
XM_011525980.1:c.4759C>T	XP_011524282.1:p.Arg1587Ter
XM_011525980.2:c.4759C>T	XP_011524282.1:p.Arg1587Ter
XM_011525981.1:c.4645C>T	XP_011524283.1:p.Arg1549Ter
XM_011525981.2:c.4645C>T	XP_011524283.1:p.Arg1549Ter
XM_011525982.1:c.4777C>T	XP_011524284.1:p.Arg1593Ter
XM_011525982.2:c.4777C>T	XP_011524284.1:p.Arg1593Ter
XM_017025743.1:c.2629C>T	XP_016881232.1:p.Arg877Ter
XM_017025744.1:c.319C>T	XP_016881233.1:p.Arg107Ter
XR_001753199.1:n.5018C>T