Canonical Allele Identifier: CA402046304

Gene: LAMA3

Linked Data

• gnomAD v4: 18-23898740-T-A
• MyVariant Identifiers: chr18:g.21478704T>A (hg19) ; chr18:g.23898740T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23898740T>A , CM000680.2:g.23898740T>A	GRCh38
NC_000018.9:g.21478704T>A , CM000680.1:g.21478704T>A	GRCh37
NC_000018.8:g.19732702T>A	NCBI36
NG_007853.2:g.214143T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.789T>A MANE Plus Clinical	ENSP00000269217.5:p.Asn263Lys
ENST00000313654.14:c.5616T>A MANE Select	ENSP00000324532.8:p.Asn1872Lys
ENST00000649721.1:c.2508T>A	ENSP00000497885.1:p.Asn836Lys
ENST00000269217.10:c.789T>A	ENSP00000269217.5:p.Asn263Lys
ENST00000313654.13:c.5616T>A	ENSP00000324532.8:p.Asn1872Lys
ENST00000399516.7:c.5616T>A	ENSP00000382432.2:p.Asn1872Lys
ENST00000586709.1:n.4T>A
ENST00000586751.5:c.394T>A
ENST00000587184.5:c.789T>A	ENSP00000466557.1:p.Asn263Lys
ENST00000588770.5:n.194T>A
NM_000227.4:c.789T>A	NP_000218.3:p.Asn263Lys
NM_001127717.2:c.5616T>A	NP_001121189.2:p.Asn1872Lys
NM_001127718.2:c.789T>A	NP_001121190.2:p.Asn263Lys
NM_198129.2:c.5616T>A	NP_937762.2:p.Asn1872Lys
XM_011525978.1:c.5643T>A	XP_011524280.1:p.Asn1881Lys
XM_011525979.1:c.5634T>A	XP_011524281.1:p.Asn1878Lys
XM_011525980.1:c.5625T>A	XP_011524282.1:p.Asn1875Lys
XM_011525981.1:c.5511T>A	XP_011524283.1:p.Asn1837Lys
XM_011525982.1:c.5643T>A	XP_011524284.1:p.Asn1881Lys
XM_011525978.2:c.5643T>A	XP_011524280.1:p.Asn1881Lys
XM_011525979.2:c.5634T>A	XP_011524281.1:p.Asn1878Lys
XM_011525980.2:c.5625T>A	XP_011524282.1:p.Asn1875Lys
XM_011525981.2:c.5511T>A	XP_011524283.1:p.Asn1837Lys
XM_011525982.2:c.5643T>A	XP_011524284.1:p.Asn1881Lys
XM_017025743.1:c.3495T>A	XP_016881232.1:p.Asn1165Lys
XM_017025744.1:c.1185T>A	XP_016881233.1:p.Asn395Lys
XR_001753199.1:n.5884T>A
NM_000227.5:c.789T>A	NP_000218.3:p.Asn263Lys
NM_001127717.3:c.5616T>A	NP_001121189.2:p.Asn1872Lys
NM_001127718.3:c.789T>A	NP_001121190.2:p.Asn263Lys
NM_198129.3:c.5616T>A	NP_937762.2:p.Asn1872Lys
NM_000227.6:c.789T>A MANE Plus Clinical	NP_000218.3:p.Asn263Lys
NM_001127717.4:c.5616T>A	NP_001121189.2:p.Asn1872Lys
NM_001127718.4:c.789T>A	NP_001121190.2:p.Asn263Lys
NM_198129.4:c.5616T>A MANE Select	NP_937762.2:p.Asn1872Lys