Canonical Allele Identifier: CA402044880

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21456273T>C (hg19) ; chr18:g.23876309T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23876309T>C , CM000680.2:g.23876309T>C	GRCh38
NC_000018.9:g.21456273T>C , CM000680.1:g.21456273T>C	GRCh37
NC_000018.8:g.19710271T>C	NCBI36
NG_007853.2:g.191712T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.187T>C MANE Plus Clinical	ENSP00000269217.5:p.Tyr63His
ENST00000313654.14:c.5014T>C MANE Select	ENSP00000324532.8:p.Tyr1672His
ENST00000649721.1:c.1906T>C	ENSP00000497885.1:p.Tyr636His
ENST00000269217.10:c.187T>C	ENSP00000269217.5:p.Tyr63His
ENST00000313654.13:c.5014T>C	ENSP00000324532.8:p.Tyr1672His
ENST00000399516.7:c.5014T>C	ENSP00000382432.2:p.Tyr1672His
ENST00000587184.5:c.187T>C	ENSP00000466557.1:p.Tyr63His
NM_000227.4:c.187T>C	NP_000218.3:p.Tyr63His
NM_001127717.2:c.5014T>C	NP_001121189.2:p.Tyr1672His
NM_001127718.2:c.187T>C	NP_001121190.2:p.Tyr63His
NM_198129.2:c.5014T>C	NP_937762.2:p.Tyr1672His
XM_011525978.1:c.5041T>C	XP_011524280.1:p.Tyr1681His
XM_011525979.1:c.5032T>C	XP_011524281.1:p.Tyr1678His
XM_011525980.1:c.5023T>C	XP_011524282.1:p.Tyr1675His
XM_011525981.1:c.4909T>C	XP_011524283.1:p.Tyr1637His
XM_011525982.1:c.5041T>C	XP_011524284.1:p.Tyr1681His
XM_011525978.2:c.5041T>C	XP_011524280.1:p.Tyr1681His
XM_011525979.2:c.5032T>C	XP_011524281.1:p.Tyr1678His
XM_011525980.2:c.5023T>C	XP_011524282.1:p.Tyr1675His
XM_011525981.2:c.4909T>C	XP_011524283.1:p.Tyr1637His
XM_011525982.2:c.5041T>C	XP_011524284.1:p.Tyr1681His
XM_017025743.1:c.2893T>C	XP_016881232.1:p.Tyr965His
XM_017025744.1:c.583T>C	XP_016881233.1:p.Tyr195His
XR_001753199.1:n.5282T>C
NM_000227.5:c.187T>C	NP_000218.3:p.Tyr63His
NM_001127717.3:c.5014T>C	NP_001121189.2:p.Tyr1672His
NM_001127718.3:c.187T>C	NP_001121190.2:p.Tyr63His
NM_198129.3:c.5014T>C	NP_937762.2:p.Tyr1672His
NM_000227.6:c.187T>C MANE Plus Clinical	NP_000218.3:p.Tyr63His
NM_001127717.4:c.5014T>C	NP_001121189.2:p.Tyr1672His
NM_001127718.4:c.187T>C	NP_001121190.2:p.Tyr63His
NM_198129.4:c.5014T>C MANE Select	NP_937762.2:p.Tyr1672His