Canonical Allele Identifier: CA8916163

Gene: LAMA3

Linked Data

• dbSNP Id: rs552535400
• ExAC: 18:21478955 A / G
• gnomAD v2: 18-21478955-A-G
• gnomAD v3: 18-23898991-A-G
• gnomAD v4: 18-23898991-A-G
• MyVariant Identifiers: chr18:g.21478955A>G (hg19) ; chr18:g.23898991A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23898991A>G , CM000680.2:g.23898991A>G	GRCh38
NC_000018.9:g.21478955A>G , CM000680.1:g.21478955A>G	GRCh37
NC_000018.8:g.19732953A>G	NCBI36
NG_007853.2:g.214394A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.935A>G MANE Plus Clinical	ENSP00000269217.5:p.Asn312Ser
ENST00000313654.14:c.5762A>G MANE Select	ENSP00000324532.8:p.Asn1921Ser
ENST00000649721.1:c.2654A>G	ENSP00000497885.1:p.Asn885Ser
ENST00000269217.10:c.935A>G	ENSP00000269217.5:p.Asn312Ser
ENST00000313654.13:c.5762A>G	ENSP00000324532.8:p.Asn1921Ser
ENST00000399516.7:c.5762A>G	ENSP00000382432.2:p.Asn1921Ser
ENST00000586709.1:n.150A>G
ENST00000586751.5:c.540A>G
ENST00000587184.5:c.935A>G	ENSP00000466557.1:p.Asn312Ser
ENST00000588770.5:n.340A>G
NM_000227.4:c.935A>G	NP_000218.3:p.Asn312Ser
NM_001127717.2:c.5762A>G	NP_001121189.2:p.Asn1921Ser
NM_001127718.2:c.935A>G	NP_001121190.2:p.Asn312Ser
NM_198129.2:c.5762A>G	NP_937762.2:p.Asn1921Ser
XM_011525978.1:c.5789A>G	XP_011524280.1:p.Asn1930Ser
XM_011525979.1:c.5780A>G	XP_011524281.1:p.Asn1927Ser
XM_011525980.1:c.5771A>G	XP_011524282.1:p.Asn1924Ser
XM_011525981.1:c.5657A>G	XP_011524283.1:p.Asn1886Ser
XM_011525982.1:c.5789A>G	XP_011524284.1:p.Asn1930Ser
XM_011525978.2:c.5789A>G	XP_011524280.1:p.Asn1930Ser
XM_011525979.2:c.5780A>G	XP_011524281.1:p.Asn1927Ser
XM_011525980.2:c.5771A>G	XP_011524282.1:p.Asn1924Ser
XM_011525981.2:c.5657A>G	XP_011524283.1:p.Asn1886Ser
XM_011525982.2:c.5789A>G	XP_011524284.1:p.Asn1930Ser
XM_017025743.1:c.3641A>G	XP_016881232.1:p.Asn1214Ser
XM_017025744.1:c.1331A>G	XP_016881233.1:p.Asn444Ser
XR_001753199.1:n.6030A>G
NM_000227.5:c.935A>G	NP_000218.3:p.Asn312Ser
NM_001127717.3:c.5762A>G	NP_001121189.2:p.Asn1921Ser
NM_001127718.3:c.935A>G	NP_001121190.2:p.Asn312Ser
NM_198129.3:c.5762A>G	NP_937762.2:p.Asn1921Ser
NM_000227.6:c.935A>G MANE Plus Clinical	NP_000218.3:p.Asn312Ser
NM_001127717.4:c.5762A>G	NP_001121189.2:p.Asn1921Ser
NM_001127718.4:c.935A>G	NP_001121190.2:p.Asn312Ser
NM_198129.4:c.5762A>G MANE Select	NP_937762.2:p.Asn1921Ser