Canonical Allele Identifier: CA402071476

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21444753C>G (hg19) ; chr18:g.23864789C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23864789C>G , CM000680.2:g.23864789C>G	GRCh38
NC_000018.9:g.21444753C>G , CM000680.1:g.21444753C>G	GRCh37
NC_000018.8:g.19698751C>G	NCBI36
NG_007853.2:g.180192C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000313654.14:c.4589C>G MANE Select	ENSP00000324532.8:p.Ser1530Cys
ENST00000649721.1:c.1481C>G	ENSP00000497885.1:p.Ser494Cys
ENST00000313654.13:c.4589C>G	ENSP00000324532.8:p.Ser1530Cys
ENST00000399516.7:c.4589C>G	ENSP00000382432.2:p.Ser1530Cys
NM_001127717.2:c.4589C>G	NP_001121189.2:p.Ser1530Cys
NM_198129.2:c.4589C>G	NP_937762.2:p.Ser1530Cys
XM_011525978.1:c.4616C>G	XP_011524280.1:p.Ser1539Cys
XM_011525979.1:c.4607C>G	XP_011524281.1:p.Ser1536Cys
XM_011525980.1:c.4598C>G	XP_011524282.1:p.Ser1533Cys
XM_011525981.1:c.4484C>G	XP_011524283.1:p.Ser1495Cys
XM_011525982.1:c.4616C>G	XP_011524284.1:p.Ser1539Cys
XM_011525978.2:c.4616C>G	XP_011524280.1:p.Ser1539Cys
XM_011525979.2:c.4607C>G	XP_011524281.1:p.Ser1536Cys
XM_011525980.2:c.4598C>G	XP_011524282.1:p.Ser1533Cys
XM_011525981.2:c.4484C>G	XP_011524283.1:p.Ser1495Cys
XM_011525982.2:c.4616C>G	XP_011524284.1:p.Ser1539Cys
XM_017025743.1:c.2468C>G	XP_016881232.1:p.Ser823Cys
XM_017025744.1:c.158C>G	XP_016881233.1:p.Ser53Cys
XR_001753199.1:n.4857C>G
NM_001127717.3:c.4589C>G	NP_001121189.2:p.Ser1530Cys
NM_198129.3:c.4589C>G	NP_937762.2:p.Ser1530Cys
NM_001127717.4:c.4589C>G	NP_001121189.2:p.Ser1530Cys
NM_198129.4:c.4589C>G MANE Select	NP_937762.2:p.Ser1530Cys