Canonical Allele Identifier: CA503336593
Gene: LAMA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.21485527G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23905563G>A , CM000680.2:g.23905563G>A GRCh38
NC_000018.9:g.21485527G>A , CM000680.1:g.21485527G>A GRCh37
NC_000018.8:g.19739525G>A NCBI36
NG_007853.2:g.220966G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269217.11:c.1830G>A MANE Plus Clinical ENSP00000269217.5:p.Leu610=
ENST00000313654.14:c.6657G>A MANE Select ENSP00000324532.8:p.Leu2219=
ENST00000649721.1:c.3549G>A ENSP00000497885.1:p.Leu1183=
ENST00000269217.10:c.1830G>A ENSP00000269217.5:p.Leu610=
ENST00000313654.13:c.6657G>A ENSP00000324532.8:p.Leu2219=
ENST00000399516.7:c.6489G>A ENSP00000382432.2:p.Leu2163=
ENST00000586751.5:c.1435G>A
ENST00000587184.5:c.1662G>A ENSP00000466557.1:p.Leu554=
ENST00000588770.5:n.1235G>A
NM_000227.4:c.1830G>A NP_000218.3:p.Leu610=
NM_001127717.2:c.6489G>A NP_001121189.2:p.Leu2163=
NM_001127718.2:c.1662G>A NP_001121190.2:p.Leu554=
NM_198129.2:c.6657G>A NP_937762.2:p.Leu2219=
XM_011525978.1:c.6684G>A XP_011524280.1:p.Leu2228=
XM_011525979.1:c.6675G>A XP_011524281.1:p.Leu2225=
XM_011525980.1:c.6666G>A XP_011524282.1:p.Leu2222=
XM_011525981.1:c.6552G>A XP_011524283.1:p.Leu2184=
XM_011525982.1:c.6684G>A XP_011524284.1:p.Leu2228=
XM_011525978.2:c.6684G>A XP_011524280.1:p.Leu2228=
XM_011525979.2:c.6675G>A XP_011524281.1:p.Leu2225=
XM_011525980.2:c.6666G>A XP_011524282.1:p.Leu2222=
XM_011525981.2:c.6552G>A XP_011524283.1:p.Leu2184=
XM_011525982.2:c.6684G>A XP_011524284.1:p.Leu2228=
XM_017025743.1:c.4536G>A XP_016881232.1:p.Leu1512=
XM_017025744.1:c.2226G>A XP_016881233.1:p.Leu742=
XR_001753199.1:n.6925G>A
NM_000227.5:c.1830G>A NP_000218.3:p.Leu610=
NM_001127717.3:c.6489G>A NP_001121189.2:p.Leu2163=
NM_001127718.3:c.1662G>A NP_001121190.2:p.Leu554=
NM_198129.3:c.6657G>A NP_937762.2:p.Leu2219=
NM_000227.6:c.1830G>A MANE Plus Clinical NP_000218.3:p.Leu610=
NM_001127717.4:c.6489G>A NP_001121189.2:p.Leu2163=
NM_001127718.4:c.1662G>A NP_001121190.2:p.Leu554=
NM_198129.4:c.6657G>A MANE Select NP_937762.2:p.Leu2219=