Canonical Allele Identifier: CA8917216

Gene: LAMA3

Linked Data

• dbSNP Id: rs759302551
• ExAC: 18:21529989 A / T
• gnomAD v2: 18-21529989-A-T
• gnomAD v4: 18-23950025-A-T
• MyVariant Identifiers: chr18:g.21529989A>T (hg19) ; chr18:g.23950025A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23950025A>T , CM000680.2:g.23950025A>T	GRCh38
NC_000018.9:g.21529989A>T , CM000680.1:g.21529989A>T	GRCh37
NC_000018.8:g.19783987A>T	NCBI36
NG_007853.2:g.265428A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.4685-4A>T MANE Plus Clinical	ENSP00000269217.5:n.4685-4A>T
ENST00000313654.14:c.9512-4A>T MANE Select	ENSP00000324532.8:n.9512-4A>T
ENST00000649721.1:c.6107-4A>T	ENSP00000497885.1:n.6107-4A>T
ENST00000269217.10:c.4685-4A>T	ENSP00000269217.5:n.4685-4A>T
ENST00000313654.13:c.9512-4A>T	ENSP00000324532.8:n.9512-4A>T
ENST00000399516.7:c.9344-4A>T	ENSP00000382432.2:n.9344-4A>T
ENST00000587184.5:c.4517-4A>T	ENSP00000466557.1:n.4517-4A>T
ENST00000588004.1:c.33-4A>T
ENST00000588770.5:n.4090-4A>T
NM_000227.4:c.4685-4A>T	NP_000218.3:n.4685-4A>T
NM_001127717.2:c.9344-4A>T	NP_001121189.2:n.9344-4A>T
NM_001127718.2:c.4517-4A>T	NP_001121190.2:n.4517-4A>T
NM_198129.2:c.9512-4A>T	NP_937762.2:n.9512-4A>T
XM_011525978.1:c.9539-4A>T	XP_011524280.1:n.9539-4A>T
XM_011525979.1:c.9530-4A>T	XP_011524281.1:n.9530-4A>T
XM_011525980.1:c.9521-4A>T	XP_011524282.1:n.9521-4A>T
XM_011525981.1:c.9407-4A>T	XP_011524283.1:n.9407-4A>T
XM_011525982.1:c.9242-4A>T	XP_011524284.1:n.9242-4A>T
XM_011525978.2:c.9539-4A>T	XP_011524280.1:n.9539-4A>T
XM_011525979.2:c.9530-4A>T	XP_011524281.1:n.9530-4A>T
XM_011525980.2:c.9521-4A>T	XP_011524282.1:n.9521-4A>T
XM_011525981.2:c.9407-4A>T	XP_011524283.1:n.9407-4A>T
XM_011525982.2:c.9242-4A>T	XP_011524284.1:n.9242-4A>T
XM_017025743.1:c.7391-4A>T	XP_016881232.1:n.7391-4A>T
XM_017025744.1:c.5081-4A>T	XP_016881233.1:n.5081-4A>T
XR_001753199.1:n.9780-4A>T
NM_000227.5:c.4685-4A>T	NP_000218.3:n.4685-4A>T
NM_001127717.3:c.9344-4A>T	NP_001121189.2:n.9344-4A>T
NM_001127718.3:c.4517-4A>T	NP_001121190.2:n.4517-4A>T
NM_198129.3:c.9512-4A>T	NP_937762.2:n.9512-4A>T
NM_000227.6:c.4685-4A>T MANE Plus Clinical	NP_000218.3:n.4685-4A>T
NM_001127717.4:c.9344-4A>T	NP_001121189.2:n.9344-4A>T
NM_001127718.4:c.4517-4A>T	NP_001121190.2:n.4517-4A>T
NM_198129.4:c.9512-4A>T MANE Select	NP_937762.2:n.9512-4A>T