Canonical Allele Identifier: CA3229117696
Community Standard Title: NM_198129.4(LAMA3):c.9575C= (p.Thr3192=)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23950092C= , CM000680.2:g.23950092C= GRCh38
NC_000018.9:g.21530056C= , CM000680.1:g.21530056C= GRCh37
NC_000018.8:g.19784054C= NCBI36
NG_007853.2:g.265495C=

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.9575C= MANE Select NP_937762.2:p.Thr3192=
ENST00000313654.14:c.9575C= MANE Select ENSP00000324532.8:p.Thr3192=
NM_000227.6:c.4748C= MANE Plus Clinical NP_000218.3:p.Thr1583=
ENST00000269217.11:c.4748C= MANE Plus Clinical ENSP00000269217.5:p.Thr1583=
NM_000227.4:c.4748C= NP_000218.3:p.Thr1583=
NM_000227.5:c.4748C= NP_000218.3:p.Thr1583=
NM_001127717.2:c.9407C= NP_001121189.2:p.Thr3136=
NM_001127717.3:c.9407C= NP_001121189.2:p.Thr3136=
NM_001127717.4:c.9407C= NP_001121189.2:p.Thr3136=
NM_001127718.2:c.4580C= NP_001121190.2:p.Thr1527=
NM_001127718.3:c.4580C= NP_001121190.2:p.Thr1527=
NM_001127718.4:c.4580C= NP_001121190.2:p.Thr1527=
NM_198129.2:c.9575C= NP_937762.2:p.Thr3192=
NM_198129.3:c.9575C= NP_937762.2:p.Thr3192=
ENST00000269217.10:c.4748C= ENSP00000269217.5:p.Thr1583=
ENST00000313654.13:c.9575C= ENSP00000324532.8:p.Thr3192=
ENST00000399516.7:c.9407C= ENSP00000382432.2:p.Thr3136=
ENST00000587184.5:c.4580C= ENSP00000466557.1:p.Thr1527=
ENST00000588004.1:c.96C=
ENST00000588770.5:n.4153C=
ENST00000649721.1:c.6170C= ENSP00000497885.1:p.Thr2057=
XM_011525978.1:c.9602C= XP_011524280.1:p.Thr3201=
XM_011525978.2:c.9602C= XP_011524280.1:p.Thr3201=
XM_011525979.1:c.9593C= XP_011524281.1:p.Thr3198=
XM_011525979.2:c.9593C= XP_011524281.1:p.Thr3198=
XM_011525980.1:c.9584C= XP_011524282.1:p.Thr3195=
XM_011525980.2:c.9584C= XP_011524282.1:p.Thr3195=
XM_011525981.1:c.9470C= XP_011524283.1:p.Thr3157=
XM_011525981.2:c.9470C= XP_011524283.1:p.Thr3157=
XM_011525982.1:c.9305C= XP_011524284.1:p.Thr3102=
XM_011525982.2:c.9305C= XP_011524284.1:p.Thr3102=
XM_017025743.1:c.7454C= XP_016881232.1:p.Thr2485=
XM_017025744.1:c.5144C= XP_016881233.1:p.Thr1715=
XR_001753199.1:n.9843C=