Canonical Allele Identifier: CA2290339028
Community Standard Title: NM_198129.4(LAMA3):c.8962C= (p.Gln2988=)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23939322C= , CM000680.2:g.23939322C= GRCh38
NC_000018.9:g.21519286C= , CM000680.1:g.21519286C= GRCh37
NC_000018.8:g.19773284C= NCBI36
NG_007853.2:g.254725C=

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.8962C= MANE Select NP_937762.2:p.Gln2988=
ENST00000313654.14:c.8962C= MANE Select ENSP00000324532.8:p.Gln2988=
NM_000227.6:c.4135C= MANE Plus Clinical NP_000218.3:p.Gln1379=
ENST00000269217.11:c.4135C= MANE Plus Clinical ENSP00000269217.5:p.Gln1379=
NM_000227.4:c.4135C= NP_000218.3:p.Gln1379=
NM_000227.5:c.4135C= NP_000218.3:p.Gln1379=
NM_001127717.2:c.8794C= NP_001121189.2:p.Gln2932=
NM_001127717.3:c.8794C= NP_001121189.2:p.Gln2932=
NM_001127717.4:c.8794C= NP_001121189.2:p.Gln2932=
NM_001127718.2:c.3967C= NP_001121190.2:p.Gln1323=
NM_001127718.3:c.3967C= NP_001121190.2:p.Gln1323=
NM_001127718.4:c.3967C= NP_001121190.2:p.Gln1323=
NM_198129.2:c.8962C= NP_937762.2:p.Gln2988=
NM_198129.3:c.8962C= NP_937762.2:p.Gln2988=
ENST00000269217.10:c.4135C= ENSP00000269217.5:p.Gln1379=
ENST00000313654.13:c.8962C= ENSP00000324532.8:p.Gln2988=
ENST00000399516.7:c.8794C= ENSP00000382432.2:p.Gln2932=
ENST00000587184.5:c.3967C= ENSP00000466557.1:p.Gln1323=
ENST00000588770.5:n.3540C=
ENST00000649721.1:c.5557C= ENSP00000497885.1:p.Gln1853=
XM_011525978.1:c.8989C= XP_011524280.1:p.Gln2997=
XM_011525978.2:c.8989C= XP_011524280.1:p.Gln2997=
XM_011525979.1:c.8980C= XP_011524281.1:p.Gln2994=
XM_011525979.2:c.8980C= XP_011524281.1:p.Gln2994=
XM_011525980.1:c.8971C= XP_011524282.1:p.Gln2991=
XM_011525980.2:c.8971C= XP_011524282.1:p.Gln2991=
XM_011525981.1:c.8857C= XP_011524283.1:p.Gln2953=
XM_011525981.2:c.8857C= XP_011524283.1:p.Gln2953=
XM_011525982.1:c.8692C= XP_011524284.1:p.Gln2898=
XM_011525982.2:c.8692C= XP_011524284.1:p.Gln2898=
XM_017025743.1:c.6841C= XP_016881232.1:p.Gln2281=
XM_017025744.1:c.4531C= XP_016881233.1:p.Gln1511=
XR_001753199.1:n.9230C=