Canonical Allele Identifier: CA402046302

Gene: LAMA3

Linked Data

• dbSNP Id: rs2080962703
• gnomAD v3: 18-23898739-A-G
• gnomAD v4: 18-23898739-A-G
• MyVariant Identifiers: chr18:g.21478703A>G (hg19) ; chr18:g.23898739A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23898739A>G , CM000680.2:g.23898739A>G	GRCh38
NC_000018.9:g.21478703A>G , CM000680.1:g.21478703A>G	GRCh37
NC_000018.8:g.19732701A>G	NCBI36
NG_007853.2:g.214142A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.788A>G MANE Plus Clinical	ENSP00000269217.5:p.Asn263Ser
ENST00000313654.14:c.5615A>G MANE Select	ENSP00000324532.8:p.Asn1872Ser
ENST00000649721.1:c.2507A>G	ENSP00000497885.1:p.Asn836Ser
ENST00000269217.10:c.788A>G	ENSP00000269217.5:p.Asn263Ser
ENST00000313654.13:c.5615A>G	ENSP00000324532.8:p.Asn1872Ser
ENST00000399516.7:c.5615A>G	ENSP00000382432.2:p.Asn1872Ser
ENST00000586709.1:n.3A>G
ENST00000586751.5:c.393A>G
ENST00000587184.5:c.788A>G	ENSP00000466557.1:p.Asn263Ser
ENST00000588770.5:n.193A>G
NM_000227.4:c.788A>G	NP_000218.3:p.Asn263Ser
NM_001127717.2:c.5615A>G	NP_001121189.2:p.Asn1872Ser
NM_001127718.2:c.788A>G	NP_001121190.2:p.Asn263Ser
NM_198129.2:c.5615A>G	NP_937762.2:p.Asn1872Ser
XM_011525978.1:c.5642A>G	XP_011524280.1:p.Asn1881Ser
XM_011525979.1:c.5633A>G	XP_011524281.1:p.Asn1878Ser
XM_011525980.1:c.5624A>G	XP_011524282.1:p.Asn1875Ser
XM_011525981.1:c.5510A>G	XP_011524283.1:p.Asn1837Ser
XM_011525982.1:c.5642A>G	XP_011524284.1:p.Asn1881Ser
XM_011525978.2:c.5642A>G	XP_011524280.1:p.Asn1881Ser
XM_011525979.2:c.5633A>G	XP_011524281.1:p.Asn1878Ser
XM_011525980.2:c.5624A>G	XP_011524282.1:p.Asn1875Ser
XM_011525981.2:c.5510A>G	XP_011524283.1:p.Asn1837Ser
XM_011525982.2:c.5642A>G	XP_011524284.1:p.Asn1881Ser
XM_017025743.1:c.3494A>G	XP_016881232.1:p.Asn1165Ser
XM_017025744.1:c.1184A>G	XP_016881233.1:p.Asn395Ser
XR_001753199.1:n.5883A>G
NM_000227.5:c.788A>G	NP_000218.3:p.Asn263Ser
NM_001127717.3:c.5615A>G	NP_001121189.2:p.Asn1872Ser
NM_001127718.3:c.788A>G	NP_001121190.2:p.Asn263Ser
NM_198129.3:c.5615A>G	NP_937762.2:p.Asn1872Ser
NM_000227.6:c.788A>G MANE Plus Clinical	NP_000218.3:p.Asn263Ser
NM_001127717.4:c.5615A>G	NP_001121189.2:p.Asn1872Ser
NM_001127718.4:c.788A>G	NP_001121190.2:p.Asn263Ser
NM_198129.4:c.5615A>G MANE Select	NP_937762.2:p.Asn1872Ser