Canonical Allele Identifier: CA402071470
Gene: LAMA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23864788T>C , CM000680.2:g.23864788T>C GRCh38
NC_000018.9:g.21444752T>C , CM000680.1:g.21444752T>C GRCh37
NC_000018.8:g.19698750T>C NCBI36
NG_007853.2:g.180191T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000313654.14:c.4588T>C MANE Select ENSP00000324532.8:p.Ser1530Pro
ENST00000649721.1:c.1480T>C ENSP00000497885.1:p.Ser494Pro
ENST00000313654.13:c.4588T>C ENSP00000324532.8:p.Ser1530Pro
ENST00000399516.7:c.4588T>C ENSP00000382432.2:p.Ser1530Pro
NM_001127717.2:c.4588T>C NP_001121189.2:p.Ser1530Pro
NM_198129.2:c.4588T>C NP_937762.2:p.Ser1530Pro
XM_011525978.1:c.4615T>C XP_011524280.1:p.Ser1539Pro
XM_011525979.1:c.4606T>C XP_011524281.1:p.Ser1536Pro
XM_011525980.1:c.4597T>C XP_011524282.1:p.Ser1533Pro
XM_011525981.1:c.4483T>C XP_011524283.1:p.Ser1495Pro
XM_011525982.1:c.4615T>C XP_011524284.1:p.Ser1539Pro
XM_011525978.2:c.4615T>C XP_011524280.1:p.Ser1539Pro
XM_011525979.2:c.4606T>C XP_011524281.1:p.Ser1536Pro
XM_011525980.2:c.4597T>C XP_011524282.1:p.Ser1533Pro
XM_011525981.2:c.4483T>C XP_011524283.1:p.Ser1495Pro
XM_011525982.2:c.4615T>C XP_011524284.1:p.Ser1539Pro
XM_017025743.1:c.2467T>C XP_016881232.1:p.Ser823Pro
XM_017025744.1:c.157T>C XP_016881233.1:p.Ser53Pro
XR_001753199.1:n.4856T>C
NM_001127717.3:c.4588T>C NP_001121189.2:p.Ser1530Pro
NM_198129.3:c.4588T>C NP_937762.2:p.Ser1530Pro
NM_001127717.4:c.4588T>C NP_001121189.2:p.Ser1530Pro
NM_198129.4:c.4588T>C MANE Select NP_937762.2:p.Ser1530Pro