Canonical Allele Identifier: CA402046418

Gene: LAMA3

Linked Data

• gnomAD v4: 18-23898792-G-C
• MyVariant Identifiers: chr18:g.21478756G>C (hg19) ; chr18:g.23898792G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23898792G>C , CM000680.2:g.23898792G>C	GRCh38
NC_000018.9:g.21478756G>C , CM000680.1:g.21478756G>C	GRCh37
NC_000018.8:g.19732754G>C	NCBI36
NG_007853.2:g.214195G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.841G>C MANE Plus Clinical	ENSP00000269217.5:p.Gly281Arg
ENST00000313654.14:c.5668G>C MANE Select	ENSP00000324532.8:p.Gly1890Arg
ENST00000649721.1:c.2560G>C	ENSP00000497885.1:p.Gly854Arg
ENST00000269217.10:c.841G>C	ENSP00000269217.5:p.Gly281Arg
ENST00000313654.13:c.5668G>C	ENSP00000324532.8:p.Gly1890Arg
ENST00000399516.7:c.5668G>C	ENSP00000382432.2:p.Gly1890Arg
ENST00000586709.1:n.56G>C
ENST00000586751.5:c.446G>C
ENST00000587184.5:c.841G>C	ENSP00000466557.1:p.Gly281Arg
ENST00000588770.5:n.246G>C
NM_000227.4:c.841G>C	NP_000218.3:p.Gly281Arg
NM_001127717.2:c.5668G>C	NP_001121189.2:p.Gly1890Arg
NM_001127718.2:c.841G>C	NP_001121190.2:p.Gly281Arg
NM_198129.2:c.5668G>C	NP_937762.2:p.Gly1890Arg
XM_011525978.1:c.5695G>C	XP_011524280.1:p.Gly1899Arg
XM_011525979.1:c.5686G>C	XP_011524281.1:p.Gly1896Arg
XM_011525980.1:c.5677G>C	XP_011524282.1:p.Gly1893Arg
XM_011525981.1:c.5563G>C	XP_011524283.1:p.Gly1855Arg
XM_011525982.1:c.5695G>C	XP_011524284.1:p.Gly1899Arg
XM_011525978.2:c.5695G>C	XP_011524280.1:p.Gly1899Arg
XM_011525979.2:c.5686G>C	XP_011524281.1:p.Gly1896Arg
XM_011525980.2:c.5677G>C	XP_011524282.1:p.Gly1893Arg
XM_011525981.2:c.5563G>C	XP_011524283.1:p.Gly1855Arg
XM_011525982.2:c.5695G>C	XP_011524284.1:p.Gly1899Arg
XM_017025743.1:c.3547G>C	XP_016881232.1:p.Gly1183Arg
XM_017025744.1:c.1237G>C	XP_016881233.1:p.Gly413Arg
XR_001753199.1:n.5936G>C
NM_000227.5:c.841G>C	NP_000218.3:p.Gly281Arg
NM_001127717.3:c.5668G>C	NP_001121189.2:p.Gly1890Arg
NM_001127718.3:c.841G>C	NP_001121190.2:p.Gly281Arg
NM_198129.3:c.5668G>C	NP_937762.2:p.Gly1890Arg
NM_000227.6:c.841G>C MANE Plus Clinical	NP_000218.3:p.Gly281Arg
NM_001127717.4:c.5668G>C	NP_001121189.2:p.Gly1890Arg
NM_001127718.4:c.841G>C	NP_001121190.2:p.Gly281Arg
NM_198129.4:c.5668G>C MANE Select	NP_937762.2:p.Gly1890Arg