Canonical Allele Identifier: CA8917182
Community Standard Title: NM_198129.4(LAMA3):c.9400G>C (p.Asp3134His)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23949813G>C , CM000680.2:g.23949813G>C GRCh38
NC_000018.9:g.21529777G>C , CM000680.1:g.21529777G>C GRCh37
NC_000018.8:g.19783775G>C NCBI36
NG_007853.2:g.265216G>C

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.9400G>C MANE Select NP_937762.2:p.Asp3134His
ENST00000313654.14:c.9400G>C MANE Select ENSP00000324532.8:p.Asp3134His
NM_000227.6:c.4573G>C MANE Plus Clinical NP_000218.3:p.Asp1525His
ENST00000269217.11:c.4573G>C MANE Plus Clinical ENSP00000269217.5:p.Asp1525His
NM_000227.4:c.4573G>C NP_000218.3:p.Asp1525His
NM_000227.5:c.4573G>C NP_000218.3:p.Asp1525His
NM_001127717.2:c.9232G>C NP_001121189.2:p.Asp3078His
NM_001127717.3:c.9232G>C NP_001121189.2:p.Asp3078His
NM_001127717.4:c.9232G>C NP_001121189.2:p.Asp3078His
NM_001127718.2:c.4405G>C NP_001121190.2:p.Asp1469His
NM_001127718.3:c.4405G>C NP_001121190.2:p.Asp1469His
NM_001127718.4:c.4405G>C NP_001121190.2:p.Asp1469His
NM_198129.2:c.9400G>C NP_937762.2:p.Asp3134His
NM_198129.3:c.9400G>C NP_937762.2:p.Asp3134His
ENST00000269217.10:c.4573G>C ENSP00000269217.5:p.Asp1525His
ENST00000313654.13:c.9400G>C ENSP00000324532.8:p.Asp3134His
ENST00000399516.7:c.9232G>C ENSP00000382432.2:p.Asp3078His
ENST00000587184.5:c.4405G>C ENSP00000466557.1:p.Asp1469His
ENST00000588770.5:n.3978G>C
ENST00000649721.1:c.5995G>C ENSP00000497885.1:p.Asp1999His
XM_011525978.1:c.9427G>C XP_011524280.1:p.Asp3143His
XM_011525978.2:c.9427G>C XP_011524280.1:p.Asp3143His
XM_011525979.1:c.9418G>C XP_011524281.1:p.Asp3140His
XM_011525979.2:c.9418G>C XP_011524281.1:p.Asp3140His
XM_011525980.1:c.9409G>C XP_011524282.1:p.Asp3137His
XM_011525980.2:c.9409G>C XP_011524282.1:p.Asp3137His
XM_011525981.1:c.9295G>C XP_011524283.1:p.Asp3099His
XM_011525981.2:c.9295G>C XP_011524283.1:p.Asp3099His
XM_011525982.1:c.9130G>C XP_011524284.1:p.Asp3044His
XM_011525982.2:c.9130G>C XP_011524284.1:p.Asp3044His
XM_017025743.1:c.7279G>C XP_016881232.1:p.Asp2427His
XM_017025744.1:c.4969G>C XP_016881233.1:p.Asp1657His
XR_001753199.1:n.9668G>C