Canonical Allele Identifier: CA503339686
Gene: LAMA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1088498
ClinVar RCV Id: RCV001407025
dbSNP Id: rs757818912
MyVariant Identifiers: chr18:g.21495333C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23915369C>T , CM000680.2:g.23915369C>T GRCh38
NC_000018.9:g.21495333C>T , CM000680.1:g.21495333C>T GRCh37
NC_000018.8:g.19749331C>T NCBI36
NG_007853.2:g.230772C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269217.11:c.2898C>T MANE Plus Clinical ENSP00000269217.5:p.Tyr966=
ENST00000313654.14:c.7725C>T MANE Select ENSP00000324532.8:p.Tyr2575=
ENST00000649721.1:c.4320C>T ENSP00000497885.1:p.Tyr1440=
ENST00000269217.10:c.2898C>T ENSP00000269217.5:p.Tyr966=
ENST00000313654.13:c.7725C>T ENSP00000324532.8:p.Tyr2575=
ENST00000399516.7:c.7557C>T ENSP00000382432.2:p.Tyr2519=
ENST00000586751.5:c.2503C>T
ENST00000587184.5:c.2730C>T ENSP00000466557.1:p.Tyr910=
ENST00000588770.5:n.2303C>T
NM_000227.4:c.2898C>T NP_000218.3:p.Tyr966=
NM_001127717.2:c.7557C>T NP_001121189.2:p.Tyr2519=
NM_001127718.2:c.2730C>T NP_001121190.2:p.Tyr910=
NM_198129.2:c.7725C>T NP_937762.2:p.Tyr2575=
XM_011525978.1:c.7752C>T XP_011524280.1:p.Tyr2584=
XM_011525979.1:c.7743C>T XP_011524281.1:p.Tyr2581=
XM_011525980.1:c.7734C>T XP_011524282.1:p.Tyr2578=
XM_011525981.1:c.7620C>T XP_011524283.1:p.Tyr2540=
XM_011525982.1:c.7455C>T XP_011524284.1:p.Tyr2485=
XM_011525978.2:c.7752C>T XP_011524280.1:p.Tyr2584=
XM_011525979.2:c.7743C>T XP_011524281.1:p.Tyr2581=
XM_011525980.2:c.7734C>T XP_011524282.1:p.Tyr2578=
XM_011525981.2:c.7620C>T XP_011524283.1:p.Tyr2540=
XM_011525982.2:c.7455C>T XP_011524284.1:p.Tyr2485=
XM_017025743.1:c.5604C>T XP_016881232.1:p.Tyr1868=
XM_017025744.1:c.3294C>T XP_016881233.1:p.Tyr1098=
XR_001753199.1:n.7993C>T
NM_000227.5:c.2898C>T NP_000218.3:p.Tyr966=
NM_001127717.3:c.7557C>T NP_001121189.2:p.Tyr2519=
NM_001127718.3:c.2730C>T NP_001121190.2:p.Tyr910=
NM_198129.3:c.7725C>T NP_937762.2:p.Tyr2575=
NM_000227.6:c.2898C>T MANE Plus Clinical NP_000218.3:p.Tyr966=
NM_001127717.4:c.7557C>T NP_001121189.2:p.Tyr2519=
NM_001127718.4:c.2730C>T NP_001121190.2:p.Tyr910=
NM_198129.4:c.7725C>T MANE Select NP_937762.2:p.Tyr2575=