Canonical Allele Identifier: CA402051387

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21485540G>C (hg19) ; chr18:g.23905576G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23905576G>C , CM000680.2:g.23905576G>C	GRCh38
NC_000018.9:g.21485540G>C , CM000680.1:g.21485540G>C	GRCh37
NC_000018.8:g.19739538G>C	NCBI36
NG_007853.2:g.220979G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.1843G>C MANE Plus Clinical	ENSP00000269217.5:p.Asp615His
ENST00000313654.14:c.6670G>C MANE Select	ENSP00000324532.8:p.Asp2224His
ENST00000649721.1:c.3562G>C	ENSP00000497885.1:p.Asp1188His
ENST00000269217.10:c.1843G>C	ENSP00000269217.5:p.Asp615His
ENST00000313654.13:c.6670G>C	ENSP00000324532.8:p.Asp2224His
ENST00000399516.7:c.6502G>C	ENSP00000382432.2:p.Asp2168His
ENST00000586751.5:c.1448G>C
ENST00000587184.5:c.1675G>C	ENSP00000466557.1:p.Asp559His
ENST00000588770.5:n.1248G>C
NM_000227.4:c.1843G>C	NP_000218.3:p.Asp615His
NM_001127717.2:c.6502G>C	NP_001121189.2:p.Asp2168His
NM_001127718.2:c.1675G>C	NP_001121190.2:p.Asp559His
NM_198129.2:c.6670G>C	NP_937762.2:p.Asp2224His
XM_011525978.1:c.6697G>C	XP_011524280.1:p.Asp2233His
XM_011525979.1:c.6688G>C	XP_011524281.1:p.Asp2230His
XM_011525980.1:c.6679G>C	XP_011524282.1:p.Asp2227His
XM_011525981.1:c.6565G>C	XP_011524283.1:p.Asp2189His
XM_011525982.1:c.6697G>C	XP_011524284.1:p.Asp2233His
XM_011525978.2:c.6697G>C	XP_011524280.1:p.Asp2233His
XM_011525979.2:c.6688G>C	XP_011524281.1:p.Asp2230His
XM_011525980.2:c.6679G>C	XP_011524282.1:p.Asp2227His
XM_011525981.2:c.6565G>C	XP_011524283.1:p.Asp2189His
XM_011525982.2:c.6697G>C	XP_011524284.1:p.Asp2233His
XM_017025743.1:c.4549G>C	XP_016881232.1:p.Asp1517His
XM_017025744.1:c.2239G>C	XP_016881233.1:p.Asp747His
XR_001753199.1:n.6938G>C
NM_000227.5:c.1843G>C	NP_000218.3:p.Asp615His
NM_001127717.3:c.6502G>C	NP_001121189.2:p.Asp2168His
NM_001127718.3:c.1675G>C	NP_001121190.2:p.Asp559His
NM_198129.3:c.6670G>C	NP_937762.2:p.Asp2224His
NM_000227.6:c.1843G>C MANE Plus Clinical	NP_000218.3:p.Asp615His
NM_001127717.4:c.6502G>C	NP_001121189.2:p.Asp2168His
NM_001127718.4:c.1675G>C	NP_001121190.2:p.Asp559His
NM_198129.4:c.6670G>C MANE Select	NP_937762.2:p.Asp2224His