Canonical Allele Identifier: CA8914487

Gene: LAMA3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23763495C>A , CM000680.2:g.23763495C>A	GRCh38
NC_000018.9:g.21343459C>A , CM000680.1:g.21343459C>A	GRCh37
NC_000018.8:g.19597457C>A	NCBI36
NG_007853.2:g.78898C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_198129.4:c.1154C>A MANE Select	NP_937762.2:p.Ala385Asp
ENST00000313654.14:c.1154C>A MANE Select	ENSP00000324532.8:p.Ala385Asp
NM_001127717.2:c.1154C>A	NP_001121189.2:p.Ala385Asp
NM_001127717.3:c.1154C>A	NP_001121189.2:p.Ala385Asp
NM_001127717.4:c.1154C>A	NP_001121189.2:p.Ala385Asp
NM_001302996.1:c.1154C>A	NP_001289925.1:p.Ala385Asp
NM_001302996.2:c.1154C>A	NP_001289925.1:p.Ala385Asp
NM_198129.2:c.1154C>A	NP_937762.2:p.Ala385Asp
NM_198129.3:c.1154C>A	NP_937762.2:p.Ala385Asp
NR_130106.1:n.1395C>A
NR_130106.2:n.1385C>A
ENST00000313654.13:c.1154C>A	ENSP00000324532.8:p.Ala385Asp
ENST00000399516.7:c.1154C>A	ENSP00000382432.2:p.Ala385Asp
ENST00000585600.5:c.1154C>A	ENSP00000468316.1:p.Ala385Asp
XM_011525978.1:c.1154C>A	XP_011524280.1:p.Ala385Asp
XM_011525978.2:c.1154C>A	XP_011524280.1:p.Ala385Asp
XM_011525979.1:c.1154C>A	XP_011524281.1:p.Ala385Asp
XM_011525979.2:c.1154C>A	XP_011524281.1:p.Ala385Asp
XM_011525980.1:c.1154C>A	XP_011524282.1:p.Ala385Asp
XM_011525980.2:c.1154C>A	XP_011524282.1:p.Ala385Asp
XM_011525981.1:c.1154C>A	XP_011524283.1:p.Ala385Asp
XM_011525981.2:c.1154C>A	XP_011524283.1:p.Ala385Asp
XM_011525982.1:c.1154C>A	XP_011524284.1:p.Ala385Asp
XM_011525982.2:c.1154C>A	XP_011524284.1:p.Ala385Asp
XR_001753199.1:n.1395C>A