Canonical Allele Identifier: CA8917013
Community Standard Title: NM_198129.4(LAMA3):c.8851C>T (p.Arg2951Cys)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23933924C>T , CM000680.2:g.23933924C>T GRCh38
NC_000018.9:g.21513888C>T , CM000680.1:g.21513888C>T GRCh37
NC_000018.8:g.19767886C>T NCBI36
NG_007853.2:g.249327C>T

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.8851C>T MANE Select NP_937762.2:p.Arg2951Cys
ENST00000313654.14:c.8851C>T MANE Select ENSP00000324532.8:p.Arg2951Cys
NM_000227.6:c.4024C>T MANE Plus Clinical NP_000218.3:p.Arg1342Cys
ENST00000269217.11:c.4024C>T MANE Plus Clinical ENSP00000269217.5:p.Arg1342Cys
NM_000227.4:c.4024C>T NP_000218.3:p.Arg1342Cys
NM_000227.5:c.4024C>T NP_000218.3:p.Arg1342Cys
NM_001127717.2:c.8683C>T NP_001121189.2:p.Arg2895Cys
NM_001127717.3:c.8683C>T NP_001121189.2:p.Arg2895Cys
NM_001127717.4:c.8683C>T NP_001121189.2:p.Arg2895Cys
NM_001127718.2:c.3856C>T NP_001121190.2:p.Arg1286Cys
NM_001127718.3:c.3856C>T NP_001121190.2:p.Arg1286Cys
NM_001127718.4:c.3856C>T NP_001121190.2:p.Arg1286Cys
NM_198129.2:c.8851C>T NP_937762.2:p.Arg2951Cys
NM_198129.3:c.8851C>T NP_937762.2:p.Arg2951Cys
ENST00000269217.10:c.4024C>T ENSP00000269217.5:p.Arg1342Cys
ENST00000313654.13:c.8851C>T ENSP00000324532.8:p.Arg2951Cys
ENST00000399516.7:c.8683C>T ENSP00000382432.2:p.Arg2895Cys
ENST00000587184.5:c.3856C>T ENSP00000466557.1:p.Arg1286Cys
ENST00000588770.5:n.3429C>T
ENST00000649721.1:c.5446C>T ENSP00000497885.1:p.Arg1816Cys
XM_011525978.1:c.8878C>T XP_011524280.1:p.Arg2960Cys
XM_011525978.2:c.8878C>T XP_011524280.1:p.Arg2960Cys
XM_011525979.1:c.8869C>T XP_011524281.1:p.Arg2957Cys
XM_011525979.2:c.8869C>T XP_011524281.1:p.Arg2957Cys
XM_011525980.1:c.8860C>T XP_011524282.1:p.Arg2954Cys
XM_011525980.2:c.8860C>T XP_011524282.1:p.Arg2954Cys
XM_011525981.1:c.8746C>T XP_011524283.1:p.Arg2916Cys
XM_011525981.2:c.8746C>T XP_011524283.1:p.Arg2916Cys
XM_011525982.1:c.8581C>T XP_011524284.1:p.Arg2861Cys
XM_011525982.2:c.8581C>T XP_011524284.1:p.Arg2861Cys
XM_017025743.1:c.6730C>T XP_016881232.1:p.Arg2244Cys
XM_017025744.1:c.4420C>T XP_016881233.1:p.Arg1474Cys
XR_001753199.1:n.9119C>T