Canonical Allele Identifier: CA402059309

Gene: LAMA3

Linked Data

• gnomAD v4: 18-23915386-T-C
• MyVariant Identifiers: chr18:g.21495350T>C (hg19) ; chr18:g.23915386T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23915386T>C , CM000680.2:g.23915386T>C	GRCh38
NC_000018.9:g.21495350T>C , CM000680.1:g.21495350T>C	GRCh37
NC_000018.8:g.19749348T>C	NCBI36
NG_007853.2:g.230789T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.2915T>C MANE Plus Clinical	ENSP00000269217.5:p.Phe972Ser
ENST00000313654.14:c.7742T>C MANE Select	ENSP00000324532.8:p.Phe2581Ser
ENST00000649721.1:c.4337T>C	ENSP00000497885.1:p.Phe1446Ser
ENST00000269217.10:c.2915T>C	ENSP00000269217.5:p.Phe972Ser
ENST00000313654.13:c.7742T>C	ENSP00000324532.8:p.Phe2581Ser
ENST00000399516.7:c.7574T>C	ENSP00000382432.2:p.Phe2525Ser
ENST00000586751.5:c.2520T>C
ENST00000587184.5:c.2747T>C	ENSP00000466557.1:p.Phe916Ser
ENST00000588770.5:n.2320T>C
NM_000227.4:c.2915T>C	NP_000218.3:p.Phe972Ser
NM_001127717.2:c.7574T>C	NP_001121189.2:p.Phe2525Ser
NM_001127718.2:c.2747T>C	NP_001121190.2:p.Phe916Ser
NM_198129.2:c.7742T>C	NP_937762.2:p.Phe2581Ser
XM_011525978.1:c.7769T>C	XP_011524280.1:p.Phe2590Ser
XM_011525979.1:c.7760T>C	XP_011524281.1:p.Phe2587Ser
XM_011525980.1:c.7751T>C	XP_011524282.1:p.Phe2584Ser
XM_011525981.1:c.7637T>C	XP_011524283.1:p.Phe2546Ser
XM_011525982.1:c.7472T>C	XP_011524284.1:p.Phe2491Ser
XM_011525978.2:c.7769T>C	XP_011524280.1:p.Phe2590Ser
XM_011525979.2:c.7760T>C	XP_011524281.1:p.Phe2587Ser
XM_011525980.2:c.7751T>C	XP_011524282.1:p.Phe2584Ser
XM_011525981.2:c.7637T>C	XP_011524283.1:p.Phe2546Ser
XM_011525982.2:c.7472T>C	XP_011524284.1:p.Phe2491Ser
XM_017025743.1:c.5621T>C	XP_016881232.1:p.Phe1874Ser
XM_017025744.1:c.3311T>C	XP_016881233.1:p.Phe1104Ser
XR_001753199.1:n.8010T>C
NM_000227.5:c.2915T>C	NP_000218.3:p.Phe972Ser
NM_001127717.3:c.7574T>C	NP_001121189.2:p.Phe2525Ser
NM_001127718.3:c.2747T>C	NP_001121190.2:p.Phe916Ser
NM_198129.3:c.7742T>C	NP_937762.2:p.Phe2581Ser
NM_000227.6:c.2915T>C MANE Plus Clinical	NP_000218.3:p.Phe972Ser
NM_001127717.4:c.7574T>C	NP_001121189.2:p.Phe2525Ser
NM_001127718.4:c.2747T>C	NP_001121190.2:p.Phe916Ser
NM_198129.4:c.7742T>C MANE Select	NP_937762.2:p.Phe2581Ser