Canonical Allele Identifier: CA503339718
Gene: LAMA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.21495372G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23915408G>T , CM000680.2:g.23915408G>T GRCh38
NC_000018.9:g.21495372G>T , CM000680.1:g.21495372G>T GRCh37
NC_000018.8:g.19749370G>T NCBI36
NG_007853.2:g.230811G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269217.11:c.2937G>T MANE Plus Clinical ENSP00000269217.5:p.Val979=
ENST00000313654.14:c.7764G>T MANE Select ENSP00000324532.8:p.Val2588=
ENST00000649721.1:c.4359G>T ENSP00000497885.1:p.Val1453=
ENST00000269217.10:c.2937G>T ENSP00000269217.5:p.Val979=
ENST00000313654.13:c.7764G>T ENSP00000324532.8:p.Val2588=
ENST00000399516.7:c.7596G>T ENSP00000382432.2:p.Val2532=
ENST00000586751.5:c.2542G>T
ENST00000587184.5:c.2769G>T ENSP00000466557.1:p.Val923=
ENST00000588770.5:n.2342G>T
NM_000227.4:c.2937G>T NP_000218.3:p.Val979=
NM_001127717.2:c.7596G>T NP_001121189.2:p.Val2532=
NM_001127718.2:c.2769G>T NP_001121190.2:p.Val923=
NM_198129.2:c.7764G>T NP_937762.2:p.Val2588=
XM_011525978.1:c.7791G>T XP_011524280.1:p.Val2597=
XM_011525979.1:c.7782G>T XP_011524281.1:p.Val2594=
XM_011525980.1:c.7773G>T XP_011524282.1:p.Val2591=
XM_011525981.1:c.7659G>T XP_011524283.1:p.Val2553=
XM_011525982.1:c.7494G>T XP_011524284.1:p.Val2498=
XM_011525978.2:c.7791G>T XP_011524280.1:p.Val2597=
XM_011525979.2:c.7782G>T XP_011524281.1:p.Val2594=
XM_011525980.2:c.7773G>T XP_011524282.1:p.Val2591=
XM_011525981.2:c.7659G>T XP_011524283.1:p.Val2553=
XM_011525982.2:c.7494G>T XP_011524284.1:p.Val2498=
XM_017025743.1:c.5643G>T XP_016881232.1:p.Val1881=
XM_017025744.1:c.3333G>T XP_016881233.1:p.Val1111=
XR_001753199.1:n.8032G>T
NM_000227.5:c.2937G>T NP_000218.3:p.Val979=
NM_001127717.3:c.7596G>T NP_001121189.2:p.Val2532=
NM_001127718.3:c.2769G>T NP_001121190.2:p.Val923=
NM_198129.3:c.7764G>T NP_937762.2:p.Val2588=
NM_000227.6:c.2937G>T MANE Plus Clinical NP_000218.3:p.Val979=
NM_001127717.4:c.7596G>T NP_001121189.2:p.Val2532=
NM_001127718.4:c.2769G>T NP_001121190.2:p.Val923=
NM_198129.4:c.7764G>T MANE Select NP_937762.2:p.Val2588=