Canonical Allele Identifier: CA402051986

Gene: LAMA3

Linked Data

• gnomAD v4: 18-23950083-G-C
• MyVariant Identifiers: chr18:g.21530047G>C (hg19) ; chr18:g.23950083G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23950083G>C , CM000680.2:g.23950083G>C	GRCh38
NC_000018.9:g.21530047G>C , CM000680.1:g.21530047G>C	GRCh37
NC_000018.8:g.19784045G>C	NCBI36
NG_007853.2:g.265486G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.4739G>C MANE Plus Clinical	ENSP00000269217.5:p.Arg1580Thr
ENST00000313654.14:c.9566G>C MANE Select	ENSP00000324532.8:p.Arg3189Thr
ENST00000649721.1:c.6161G>C	ENSP00000497885.1:p.Arg2054Thr
ENST00000269217.10:c.4739G>C	ENSP00000269217.5:p.Arg1580Thr
ENST00000313654.13:c.9566G>C	ENSP00000324532.8:p.Arg3189Thr
ENST00000399516.7:c.9398G>C	ENSP00000382432.2:p.Arg3133Thr
ENST00000587184.5:c.4571G>C	ENSP00000466557.1:p.Arg1524Thr
ENST00000588004.1:c.87G>C
ENST00000588770.5:n.4144G>C
NM_000227.4:c.4739G>C	NP_000218.3:p.Arg1580Thr
NM_001127717.2:c.9398G>C	NP_001121189.2:p.Arg3133Thr
NM_001127718.2:c.4571G>C	NP_001121190.2:p.Arg1524Thr
NM_198129.2:c.9566G>C	NP_937762.2:p.Arg3189Thr
XM_011525978.1:c.9593G>C	XP_011524280.1:p.Arg3198Thr
XM_011525979.1:c.9584G>C	XP_011524281.1:p.Arg3195Thr
XM_011525980.1:c.9575G>C	XP_011524282.1:p.Arg3192Thr
XM_011525981.1:c.9461G>C	XP_011524283.1:p.Arg3154Thr
XM_011525982.1:c.9296G>C	XP_011524284.1:p.Arg3099Thr
XM_011525978.2:c.9593G>C	XP_011524280.1:p.Arg3198Thr
XM_011525979.2:c.9584G>C	XP_011524281.1:p.Arg3195Thr
XM_011525980.2:c.9575G>C	XP_011524282.1:p.Arg3192Thr
XM_011525981.2:c.9461G>C	XP_011524283.1:p.Arg3154Thr
XM_011525982.2:c.9296G>C	XP_011524284.1:p.Arg3099Thr
XM_017025743.1:c.7445G>C	XP_016881232.1:p.Arg2482Thr
XM_017025744.1:c.5135G>C	XP_016881233.1:p.Arg1712Thr
XR_001753199.1:n.9834G>C
NM_000227.5:c.4739G>C	NP_000218.3:p.Arg1580Thr
NM_001127717.3:c.9398G>C	NP_001121189.2:p.Arg3133Thr
NM_001127718.3:c.4571G>C	NP_001121190.2:p.Arg1524Thr
NM_198129.3:c.9566G>C	NP_937762.2:p.Arg3189Thr
NM_000227.6:c.4739G>C MANE Plus Clinical	NP_000218.3:p.Arg1580Thr
NM_001127717.4:c.9398G>C	NP_001121189.2:p.Arg3133Thr
NM_001127718.4:c.4571G>C	NP_001121190.2:p.Arg1524Thr
NM_198129.4:c.9566G>C MANE Select	NP_937762.2:p.Arg3189Thr