Canonical Allele Identifier: CA8916071

Gene: LAMA3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23894938C>T , CM000680.2:g.23894938C>T	GRCh38
NC_000018.9:g.21474902C>T , CM000680.1:g.21474902C>T	GRCh37
NC_000018.8:g.19728900C>T	NCBI36
NG_007853.2:g.210341C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_198129.4:c.5493C>T MANE Select	NP_937762.2:p.Asn1831=
ENST00000313654.14:c.5493C>T MANE Select	ENSP00000324532.8:p.Asn1831=
NM_000227.6:c.666C>T MANE Plus Clinical	NP_000218.3:p.Asn222=
ENST00000269217.11:c.666C>T MANE Plus Clinical	ENSP00000269217.5:p.Asn222=
NM_000227.4:c.666C>T	NP_000218.3:p.Asn222=
NM_000227.5:c.666C>T	NP_000218.3:p.Asn222=
NM_001127717.2:c.5493C>T	NP_001121189.2:p.Asn1831=
NM_001127717.3:c.5493C>T	NP_001121189.2:p.Asn1831=
NM_001127717.4:c.5493C>T	NP_001121189.2:p.Asn1831=
NM_001127718.2:c.666C>T	NP_001121190.2:p.Asn222=
NM_001127718.3:c.666C>T	NP_001121190.2:p.Asn222=
NM_001127718.4:c.666C>T	NP_001121190.2:p.Asn222=
NM_198129.2:c.5493C>T	NP_937762.2:p.Asn1831=
NM_198129.3:c.5493C>T	NP_937762.2:p.Asn1831=
ENST00000269217.10:c.666C>T	ENSP00000269217.5:p.Asn222=
ENST00000313654.13:c.5493C>T	ENSP00000324532.8:p.Asn1831=
ENST00000399516.7:c.5493C>T	ENSP00000382432.2:p.Asn1831=
ENST00000586751.5:c.271C>T
ENST00000587184.5:c.666C>T	ENSP00000466557.1:p.Asn222=
ENST00000649721.1:c.2385C>T	ENSP00000497885.1:p.Asn795=
XM_011525978.1:c.5520C>T	XP_011524280.1:p.Asn1840=
XM_011525978.2:c.5520C>T	XP_011524280.1:p.Asn1840=
XM_011525979.1:c.5511C>T	XP_011524281.1:p.Asn1837=
XM_011525979.2:c.5511C>T	XP_011524281.1:p.Asn1837=
XM_011525980.1:c.5502C>T	XP_011524282.1:p.Asn1834=
XM_011525980.2:c.5502C>T	XP_011524282.1:p.Asn1834=
XM_011525981.1:c.5388C>T	XP_011524283.1:p.Asn1796=
XM_011525981.2:c.5388C>T	XP_011524283.1:p.Asn1796=
XM_011525982.1:c.5520C>T	XP_011524284.1:p.Asn1840=
XM_011525982.2:c.5520C>T	XP_011524284.1:p.Asn1840=
XM_017025743.1:c.3372C>T	XP_016881232.1:p.Asn1124=
XM_017025744.1:c.1062C>T	XP_016881233.1:p.Asn354=
XR_001753199.1:n.5761C>T