Canonical Allele Identifier: CA503327863

Gene: LAMA3

Linked Data

• ClinVar Variation Id: 2858556
• ClinVar RCV Id: RCV003699420
• MyVariant Identifiers: chr18:g.21456299T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23876335T>C , CM000680.2:g.23876335T>C	GRCh38
NC_000018.9:g.21456299T>C , CM000680.1:g.21456299T>C	GRCh37
NC_000018.8:g.19710297T>C	NCBI36
NG_007853.2:g.191738T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.213T>C MANE Plus Clinical	ENSP00000269217.5:p.Tyr71=
ENST00000313654.14:c.5040T>C MANE Select	ENSP00000324532.8:p.Tyr1680=
ENST00000649721.1:c.1932T>C	ENSP00000497885.1:p.Tyr644=
ENST00000269217.10:c.213T>C	ENSP00000269217.5:p.Tyr71=
ENST00000313654.13:c.5040T>C	ENSP00000324532.8:p.Tyr1680=
ENST00000399516.7:c.5040T>C	ENSP00000382432.2:p.Tyr1680=
ENST00000587184.5:c.213T>C	ENSP00000466557.1:p.Tyr71=
NM_000227.4:c.213T>C	NP_000218.3:p.Tyr71=
NM_001127717.2:c.5040T>C	NP_001121189.2:p.Tyr1680=
NM_001127718.2:c.213T>C	NP_001121190.2:p.Tyr71=
NM_198129.2:c.5040T>C	NP_937762.2:p.Tyr1680=
XM_011525978.1:c.5067T>C	XP_011524280.1:p.Tyr1689=
XM_011525979.1:c.5058T>C	XP_011524281.1:p.Tyr1686=
XM_011525980.1:c.5049T>C	XP_011524282.1:p.Tyr1683=
XM_011525981.1:c.4935T>C	XP_011524283.1:p.Tyr1645=
XM_011525982.1:c.5067T>C	XP_011524284.1:p.Tyr1689=
XM_011525978.2:c.5067T>C	XP_011524280.1:p.Tyr1689=
XM_011525979.2:c.5058T>C	XP_011524281.1:p.Tyr1686=
XM_011525980.2:c.5049T>C	XP_011524282.1:p.Tyr1683=
XM_011525981.2:c.4935T>C	XP_011524283.1:p.Tyr1645=
XM_011525982.2:c.5067T>C	XP_011524284.1:p.Tyr1689=
XM_017025743.1:c.2919T>C	XP_016881232.1:p.Tyr973=
XM_017025744.1:c.609T>C	XP_016881233.1:p.Tyr203=
XR_001753199.1:n.5308T>C
NM_000227.5:c.213T>C	NP_000218.3:p.Tyr71=
NM_001127717.3:c.5040T>C	NP_001121189.2:p.Tyr1680=
NM_001127718.3:c.213T>C	NP_001121190.2:p.Tyr71=
NM_198129.3:c.5040T>C	NP_937762.2:p.Tyr1680=
NM_000227.6:c.213T>C MANE Plus Clinical	NP_000218.3:p.Tyr71=
NM_001127717.4:c.5040T>C	NP_001121189.2:p.Tyr1680=
NM_001127718.4:c.213T>C	NP_001121190.2:p.Tyr71=
NM_198129.4:c.5040T>C MANE Select	NP_937762.2:p.Tyr1680=