Canonical Allele Identifier: CA2590787869

Gene: LAMA3

Linked Data

• dbSNP Id: rs2145253448
• gnomAD v3: 18-23915534-C-T
• gnomAD v4: 18-23915534-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23915534C>T , CM000680.2:g.23915534C>T	GRCh38
NC_000018.9:g.21495498C>T , CM000680.1:g.21495498C>T	GRCh37
NC_000018.8:g.19749496C>T	NCBI36
NG_007853.2:g.230937C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.2951+112C>T MANE Plus Clinical	ENSP00000269217.5:n.2951+112C>T
ENST00000313654.14:c.7778+112C>T MANE Select	ENSP00000324532.8:n.7778+112C>T
ENST00000649721.1:c.4373+112C>T	ENSP00000497885.1:n.4373+112C>T
ENST00000269217.10:c.2951+112C>T	ENSP00000269217.5:n.2951+112C>T
ENST00000313654.13:c.7778+112C>T	ENSP00000324532.8:n.7778+112C>T
ENST00000399516.7:c.7610+112C>T	ENSP00000382432.2:n.7610+112C>T
ENST00000586751.5:c.2556+112C>T
ENST00000587184.5:c.2783+112C>T	ENSP00000466557.1:n.2783+112C>T
ENST00000588770.5:n.2356+112C>T
NM_000227.4:c.2951+112C>T	NP_000218.3:n.2951+112C>T
NM_001127717.2:c.7610+112C>T	NP_001121189.2:n.7610+112C>T
NM_001127718.2:c.2783+112C>T	NP_001121190.2:n.2783+112C>T
NM_198129.2:c.7778+112C>T	NP_937762.2:n.7778+112C>T
XM_011525978.1:c.7805+112C>T	XP_011524280.1:n.7805+112C>T
XM_011525979.1:c.7796+112C>T	XP_011524281.1:n.7796+112C>T
XM_011525980.1:c.7787+112C>T	XP_011524282.1:n.7787+112C>T
XM_011525981.1:c.7673+112C>T	XP_011524283.1:n.7673+112C>T
XM_011525982.1:c.7508+112C>T	XP_011524284.1:n.7508+112C>T
XM_011525978.2:c.7805+112C>T	XP_011524280.1:n.7805+112C>T
XM_011525979.2:c.7796+112C>T	XP_011524281.1:n.7796+112C>T
XM_011525980.2:c.7787+112C>T	XP_011524282.1:n.7787+112C>T
XM_011525981.2:c.7673+112C>T	XP_011524283.1:n.7673+112C>T
XM_011525982.2:c.7508+112C>T	XP_011524284.1:n.7508+112C>T
XM_017025743.1:c.5657+112C>T	XP_016881232.1:n.5657+112C>T
XM_017025744.1:c.3347+112C>T	XP_016881233.1:n.3347+112C>T
XR_001753199.1:n.8046+112C>T
NM_000227.5:c.2951+112C>T	NP_000218.3:n.2951+112C>T
NM_001127717.3:c.7610+112C>T	NP_001121189.2:n.7610+112C>T
NM_001127718.3:c.2783+112C>T	NP_001121190.2:n.2783+112C>T
NM_198129.3:c.7778+112C>T	NP_937762.2:n.7778+112C>T
NM_000227.6:c.2951+112C>T MANE Plus Clinical	NP_000218.3:n.2951+112C>T
NM_001127717.4:c.7610+112C>T	NP_001121189.2:n.7610+112C>T
NM_001127718.4:c.2783+112C>T	NP_001121190.2:n.2783+112C>T
NM_198129.4:c.7778+112C>T MANE Select	NP_937762.2:n.7778+112C>T