Canonical Allele Identifier: CA8916873
Gene: LAMA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 370076
dbSNP Id: rs774133746

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23928148C>T , CM000680.2:g.23928148C>T GRCh38
NC_000018.9:g.21508112C>T , CM000680.1:g.21508112C>T GRCh37
NC_000018.8:g.19762110C>T NCBI36
NG_007853.2:g.243551C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000269217.11:c.3376C>T MANE Plus Clinical ENSP00000269217.5:p.Arg1126Ter
ENST00000313654.14:c.8203C>T MANE Select ENSP00000324532.8:p.Arg2735Ter
ENST00000649721.1:c.4798C>T ENSP00000497885.1:p.Arg1600Ter
ENST00000269217.10:c.3376C>T ENSP00000269217.5:p.Arg1126Ter
ENST00000313654.13:c.8203C>T ENSP00000324532.8:p.Arg2735Ter
ENST00000399516.7:c.8035C>T ENSP00000382432.2:p.Arg2679Ter
ENST00000586751.5:c.2981C>T
ENST00000587184.5:c.3208C>T ENSP00000466557.1:p.Arg1070Ter
ENST00000588770.5:n.2781C>T
NM_000227.4:c.3376C>T NP_000218.3:p.Arg1126Ter
NM_001127717.2:c.8035C>T NP_001121189.2:p.Arg2679Ter
NM_001127718.2:c.3208C>T NP_001121190.2:p.Arg1070Ter
NM_198129.2:c.8203C>T NP_937762.2:p.Arg2735Ter
XM_011525978.1:c.8230C>T XP_011524280.1:p.Arg2744Ter
XM_011525979.1:c.8221C>T XP_011524281.1:p.Arg2741Ter
XM_011525980.1:c.8212C>T XP_011524282.1:p.Arg2738Ter
XM_011525981.1:c.8098C>T XP_011524283.1:p.Arg2700Ter
XM_011525982.1:c.7933C>T XP_011524284.1:p.Arg2645Ter
XM_011525978.2:c.8230C>T XP_011524280.1:p.Arg2744Ter
XM_011525979.2:c.8221C>T XP_011524281.1:p.Arg2741Ter
XM_011525980.2:c.8212C>T XP_011524282.1:p.Arg2738Ter
XM_011525981.2:c.8098C>T XP_011524283.1:p.Arg2700Ter
XM_011525982.2:c.7933C>T XP_011524284.1:p.Arg2645Ter
XM_017025743.1:c.6082C>T XP_016881232.1:p.Arg2028Ter
XM_017025744.1:c.3772C>T XP_016881233.1:p.Arg1258Ter
XR_001753199.1:n.8471C>T
NM_000227.5:c.3376C>T NP_000218.3:p.Arg1126Ter
NM_001127717.3:c.8035C>T NP_001121189.2:p.Arg2679Ter
NM_001127718.3:c.3208C>T NP_001121190.2:p.Arg1070Ter
NM_198129.3:c.8203C>T NP_937762.2:p.Arg2735Ter
NM_000227.6:c.3376C>T MANE Plus Clinical NP_000218.3:p.Arg1126Ter
NM_001127717.4:c.8035C>T NP_001121189.2:p.Arg2679Ter
NM_001127718.4:c.3208C>T NP_001121190.2:p.Arg1070Ter
NM_198129.4:c.8203C>T MANE Select NP_937762.2:p.Arg2735Ter