Canonical Allele Identifier: CA402064007

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21508658G>C (hg19) ; chr18:g.23928694G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23928694G>C , CM000680.2:g.23928694G>C	GRCh38
NC_000018.9:g.21508658G>C , CM000680.1:g.21508658G>C	GRCh37
NC_000018.8:g.19762656G>C	NCBI36
NG_007853.2:g.244097G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.3538G>C MANE Plus Clinical	ENSP00000269217.5:p.Asp1180His
ENST00000313654.14:c.8365G>C MANE Select	ENSP00000324532.8:p.Asp2789His
ENST00000649721.1:c.4960G>C	ENSP00000497885.1:p.Asp1654His
ENST00000269217.10:c.3538G>C	ENSP00000269217.5:p.Asp1180His
ENST00000313654.13:c.8365G>C	ENSP00000324532.8:p.Asp2789His
ENST00000399516.7:c.8197G>C	ENSP00000382432.2:p.Asp2733His
ENST00000586751.5:c.3143G>C
ENST00000587184.5:c.3370G>C	ENSP00000466557.1:p.Asp1124His
ENST00000588164.2:c.70G>C	ENSP00000467473.2:p.Asp24His
ENST00000588770.5:n.2943G>C
NM_000227.4:c.3538G>C	NP_000218.3:p.Asp1180His
NM_001127717.2:c.8197G>C	NP_001121189.2:p.Asp2733His
NM_001127718.2:c.3370G>C	NP_001121190.2:p.Asp1124His
NM_198129.2:c.8365G>C	NP_937762.2:p.Asp2789His
XM_011525978.1:c.8392G>C	XP_011524280.1:p.Asp2798His
XM_011525979.1:c.8383G>C	XP_011524281.1:p.Asp2795His
XM_011525980.1:c.8374G>C	XP_011524282.1:p.Asp2792His
XM_011525981.1:c.8260G>C	XP_011524283.1:p.Asp2754His
XM_011525982.1:c.8095G>C	XP_011524284.1:p.Asp2699His
XM_011525978.2:c.8392G>C	XP_011524280.1:p.Asp2798His
XM_011525979.2:c.8383G>C	XP_011524281.1:p.Asp2795His
XM_011525980.2:c.8374G>C	XP_011524282.1:p.Asp2792His
XM_011525981.2:c.8260G>C	XP_011524283.1:p.Asp2754His
XM_011525982.2:c.8095G>C	XP_011524284.1:p.Asp2699His
XM_017025743.1:c.6244G>C	XP_016881232.1:p.Asp2082His
XM_017025744.1:c.3934G>C	XP_016881233.1:p.Asp1312His
XR_001753199.1:n.8633G>C
NM_000227.5:c.3538G>C	NP_000218.3:p.Asp1180His
NM_001127717.3:c.8197G>C	NP_001121189.2:p.Asp2733His
NM_001127718.3:c.3370G>C	NP_001121190.2:p.Asp1124His
NM_198129.3:c.8365G>C	NP_937762.2:p.Asp2789His
NM_000227.6:c.3538G>C MANE Plus Clinical	NP_000218.3:p.Asp1180His
NM_001127717.4:c.8197G>C	NP_001121189.2:p.Asp2733His
NM_001127718.4:c.3370G>C	NP_001121190.2:p.Asp1124His
NM_198129.4:c.8365G>C MANE Select	NP_937762.2:p.Asp2789His