Canonical Allele Identifier: CA503522822
Gene: LAMA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2815846
ClinVar RCV Id: RCV003685619
MyVariant Identifiers: chr18:g.21530048A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23950084A>G , CM000680.2:g.23950084A>G GRCh38
NC_000018.9:g.21530048A>G , CM000680.1:g.21530048A>G GRCh37
NC_000018.8:g.19784046A>G NCBI36
NG_007853.2:g.265487A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000269217.11:c.4740A>G MANE Plus Clinical ENSP00000269217.5:p.Arg1580=
ENST00000313654.14:c.9567A>G MANE Select ENSP00000324532.8:p.Arg3189=
ENST00000649721.1:c.6162A>G ENSP00000497885.1:p.Arg2054=
ENST00000269217.10:c.4740A>G ENSP00000269217.5:p.Arg1580=
ENST00000313654.13:c.9567A>G ENSP00000324532.8:p.Arg3189=
ENST00000399516.7:c.9399A>G ENSP00000382432.2:p.Arg3133=
ENST00000587184.5:c.4572A>G ENSP00000466557.1:p.Arg1524=
ENST00000588004.1:c.88A>G
ENST00000588770.5:n.4145A>G
NM_000227.4:c.4740A>G NP_000218.3:p.Arg1580=
NM_001127717.2:c.9399A>G NP_001121189.2:p.Arg3133=
NM_001127718.2:c.4572A>G NP_001121190.2:p.Arg1524=
NM_198129.2:c.9567A>G NP_937762.2:p.Arg3189=
XM_011525978.1:c.9594A>G XP_011524280.1:p.Arg3198=
XM_011525979.1:c.9585A>G XP_011524281.1:p.Arg3195=
XM_011525980.1:c.9576A>G XP_011524282.1:p.Arg3192=
XM_011525981.1:c.9462A>G XP_011524283.1:p.Arg3154=
XM_011525982.1:c.9297A>G XP_011524284.1:p.Arg3099=
XM_011525978.2:c.9594A>G XP_011524280.1:p.Arg3198=
XM_011525979.2:c.9585A>G XP_011524281.1:p.Arg3195=
XM_011525980.2:c.9576A>G XP_011524282.1:p.Arg3192=
XM_011525981.2:c.9462A>G XP_011524283.1:p.Arg3154=
XM_011525982.2:c.9297A>G XP_011524284.1:p.Arg3099=
XM_017025743.1:c.7446A>G XP_016881232.1:p.Arg2482=
XM_017025744.1:c.5136A>G XP_016881233.1:p.Arg1712=
XR_001753199.1:n.9835A>G
NM_000227.5:c.4740A>G NP_000218.3:p.Arg1580=
NM_001127717.3:c.9399A>G NP_001121189.2:p.Arg3133=
NM_001127718.3:c.4572A>G NP_001121190.2:p.Arg1524=
NM_198129.3:c.9567A>G NP_937762.2:p.Arg3189=
NM_000227.6:c.4740A>G MANE Plus Clinical NP_000218.3:p.Arg1580=
NM_001127717.4:c.9399A>G NP_001121189.2:p.Arg3133=
NM_001127718.4:c.4572A>G NP_001121190.2:p.Arg1524=
NM_198129.4:c.9567A>G MANE Select NP_937762.2:p.Arg3189=