Canonical Allele Identifier: CA8916005

Gene: LAMA3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23890047C>T , CM000680.2:g.23890047C>T	GRCh38
NC_000018.9:g.21470011C>T , CM000680.1:g.21470011C>T	GRCh37
NC_000018.8:g.19724009C>T	NCBI36
NG_007853.2:g.205450C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_198129.4:c.5340C>T MANE Select	NP_937762.2:p.Phe1780=
ENST00000313654.14:c.5340C>T MANE Select	ENSP00000324532.8:p.Phe1780=
NM_000227.6:c.513C>T MANE Plus Clinical	NP_000218.3:p.Phe171=
ENST00000269217.11:c.513C>T MANE Plus Clinical	ENSP00000269217.5:p.Phe171=
NM_000227.4:c.513C>T	NP_000218.3:p.Phe171=
NM_000227.5:c.513C>T	NP_000218.3:p.Phe171=
NM_001127717.2:c.5340C>T	NP_001121189.2:p.Phe1780=
NM_001127717.3:c.5340C>T	NP_001121189.2:p.Phe1780=
NM_001127717.4:c.5340C>T	NP_001121189.2:p.Phe1780=
NM_001127718.2:c.513C>T	NP_001121190.2:p.Phe171=
NM_001127718.3:c.513C>T	NP_001121190.2:p.Phe171=
NM_001127718.4:c.513C>T	NP_001121190.2:p.Phe171=
NM_198129.2:c.5340C>T	NP_937762.2:p.Phe1780=
NM_198129.3:c.5340C>T	NP_937762.2:p.Phe1780=
ENST00000269217.10:c.513C>T	ENSP00000269217.5:p.Phe171=
ENST00000313654.13:c.5340C>T	ENSP00000324532.8:p.Phe1780=
ENST00000399516.7:c.5340C>T	ENSP00000382432.2:p.Phe1780=
ENST00000586751.5:c.118C>T
ENST00000587184.5:c.513C>T	ENSP00000466557.1:p.Phe171=
ENST00000649721.1:c.2232C>T	ENSP00000497885.1:p.Phe744=
XM_011525978.1:c.5367C>T	XP_011524280.1:p.Phe1789=
XM_011525978.2:c.5367C>T	XP_011524280.1:p.Phe1789=
XM_011525979.1:c.5358C>T	XP_011524281.1:p.Phe1786=
XM_011525979.2:c.5358C>T	XP_011524281.1:p.Phe1786=
XM_011525980.1:c.5349C>T	XP_011524282.1:p.Phe1783=
XM_011525980.2:c.5349C>T	XP_011524282.1:p.Phe1783=
XM_011525981.1:c.5235C>T	XP_011524283.1:p.Phe1745=
XM_011525981.2:c.5235C>T	XP_011524283.1:p.Phe1745=
XM_011525982.1:c.5367C>T	XP_011524284.1:p.Phe1789=
XM_011525982.2:c.5367C>T	XP_011524284.1:p.Phe1789=
XM_017025743.1:c.3219C>T	XP_016881232.1:p.Phe1073=
XM_017025744.1:c.909C>T	XP_016881233.1:p.Phe303=
XR_001753199.1:n.5608C>T