Canonical Allele Identifier: CA2290314710
Community Standard Title: NM_198129.4(LAMA3):c.5152T= (p.Cys1718=)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23881975T= , CM000680.2:g.23881975T= GRCh38
NC_000018.9:g.21461939T= , CM000680.1:g.21461939T= GRCh37
NC_000018.8:g.19715937T= NCBI36
NG_007853.2:g.197378T=

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.5152T= MANE Select NP_937762.2:p.Cys1718=
ENST00000313654.14:c.5152T= MANE Select ENSP00000324532.8:p.Cys1718=
NM_000227.6:c.325T= MANE Plus Clinical NP_000218.3:p.Cys109=
ENST00000269217.11:c.325T= MANE Plus Clinical ENSP00000269217.5:p.Cys109=
NM_000227.4:c.325T= NP_000218.3:p.Cys109=
NM_000227.5:c.325T= NP_000218.3:p.Cys109=
NM_001127717.2:c.5152T= NP_001121189.2:p.Cys1718=
NM_001127717.3:c.5152T= NP_001121189.2:p.Cys1718=
NM_001127717.4:c.5152T= NP_001121189.2:p.Cys1718=
NM_001127718.2:c.325T= NP_001121190.2:p.Cys109=
NM_001127718.3:c.325T= NP_001121190.2:p.Cys109=
NM_001127718.4:c.325T= NP_001121190.2:p.Cys109=
NM_198129.2:c.5152T= NP_937762.2:p.Cys1718=
NM_198129.3:c.5152T= NP_937762.2:p.Cys1718=
ENST00000269217.10:c.325T= ENSP00000269217.5:p.Cys109=
ENST00000313654.13:c.5152T= ENSP00000324532.8:p.Cys1718=
ENST00000399516.7:c.5152T= ENSP00000382432.2:p.Cys1718=
ENST00000587184.5:c.325T= ENSP00000466557.1:p.Cys109=
ENST00000649721.1:c.2044T= ENSP00000497885.1:p.Cys682=
XM_011525978.1:c.5179T= XP_011524280.1:p.Cys1727=
XM_011525978.2:c.5179T= XP_011524280.1:p.Cys1727=
XM_011525979.1:c.5170T= XP_011524281.1:p.Cys1724=
XM_011525979.2:c.5170T= XP_011524281.1:p.Cys1724=
XM_011525980.1:c.5161T= XP_011524282.1:p.Cys1721=
XM_011525980.2:c.5161T= XP_011524282.1:p.Cys1721=
XM_011525981.1:c.5047T= XP_011524283.1:p.Cys1683=
XM_011525981.2:c.5047T= XP_011524283.1:p.Cys1683=
XM_011525982.1:c.5179T= XP_011524284.1:p.Cys1727=
XM_011525982.2:c.5179T= XP_011524284.1:p.Cys1727=
XM_017025743.1:c.3031T= XP_016881232.1:p.Cys1011=
XM_017025744.1:c.721T= XP_016881233.1:p.Cys241=
XR_001753199.1:n.5420T=