Canonical Allele Identifier: CA503339725

Gene: LAMA3

Linked Data

• gnomAD v4: 18-23915414-T-C
• MyVariant Identifiers: chr18:g.21495378T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23915414T>C , CM000680.2:g.23915414T>C	GRCh38
NC_000018.9:g.21495378T>C , CM000680.1:g.21495378T>C	GRCh37
NC_000018.8:g.19749376T>C	NCBI36
NG_007853.2:g.230817T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.2943T>C MANE Plus Clinical	ENSP00000269217.5:p.Pro981=
ENST00000313654.14:c.7770T>C MANE Select	ENSP00000324532.8:p.Pro2590=
ENST00000649721.1:c.4365T>C	ENSP00000497885.1:p.Pro1455=
ENST00000269217.10:c.2943T>C	ENSP00000269217.5:p.Pro981=
ENST00000313654.13:c.7770T>C	ENSP00000324532.8:p.Pro2590=
ENST00000399516.7:c.7602T>C	ENSP00000382432.2:p.Pro2534=
ENST00000586751.5:c.2548T>C
ENST00000587184.5:c.2775T>C	ENSP00000466557.1:p.Pro925=
ENST00000588770.5:n.2348T>C
NM_000227.4:c.2943T>C	NP_000218.3:p.Pro981=
NM_001127717.2:c.7602T>C	NP_001121189.2:p.Pro2534=
NM_001127718.2:c.2775T>C	NP_001121190.2:p.Pro925=
NM_198129.2:c.7770T>C	NP_937762.2:p.Pro2590=
XM_011525978.1:c.7797T>C	XP_011524280.1:p.Pro2599=
XM_011525979.1:c.7788T>C	XP_011524281.1:p.Pro2596=
XM_011525980.1:c.7779T>C	XP_011524282.1:p.Pro2593=
XM_011525981.1:c.7665T>C	XP_011524283.1:p.Pro2555=
XM_011525982.1:c.7500T>C	XP_011524284.1:p.Pro2500=
XM_011525978.2:c.7797T>C	XP_011524280.1:p.Pro2599=
XM_011525979.2:c.7788T>C	XP_011524281.1:p.Pro2596=
XM_011525980.2:c.7779T>C	XP_011524282.1:p.Pro2593=
XM_011525981.2:c.7665T>C	XP_011524283.1:p.Pro2555=
XM_011525982.2:c.7500T>C	XP_011524284.1:p.Pro2500=
XM_017025743.1:c.5649T>C	XP_016881232.1:p.Pro1883=
XM_017025744.1:c.3339T>C	XP_016881233.1:p.Pro1113=
XR_001753199.1:n.8038T>C
NM_000227.5:c.2943T>C	NP_000218.3:p.Pro981=
NM_001127717.3:c.7602T>C	NP_001121189.2:p.Pro2534=
NM_001127718.3:c.2775T>C	NP_001121190.2:p.Pro925=
NM_198129.3:c.7770T>C	NP_937762.2:p.Pro2590=
NM_000227.6:c.2943T>C MANE Plus Clinical	NP_000218.3:p.Pro981=
NM_001127717.4:c.7602T>C	NP_001121189.2:p.Pro2534=
NM_001127718.4:c.2775T>C	NP_001121190.2:p.Pro925=
NM_198129.4:c.7770T>C MANE Select	NP_937762.2:p.Pro2590=