Canonical Allele Identifier: CA402051501
Gene: LAMA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23905625G>T , CM000680.2:g.23905625G>T GRCh38
NC_000018.9:g.21485589G>T , CM000680.1:g.21485589G>T GRCh37
NC_000018.8:g.19739587G>T NCBI36
NG_007853.2:g.221028G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269217.11:c.1891+1G>T MANE Plus Clinical ENSP00000269217.5:n.1891+1G>T
ENST00000313654.14:c.6718+1G>T MANE Select ENSP00000324532.8:n.6718+1G>T
ENST00000649721.1:c.3610+1G>T ENSP00000497885.1:n.3610+1G>T
ENST00000269217.10:c.1891+1G>T ENSP00000269217.5:n.1891+1G>T
ENST00000313654.13:c.6718+1G>T ENSP00000324532.8:n.6718+1G>T
ENST00000399516.7:c.6550+1G>T ENSP00000382432.2:n.6550+1G>T
ENST00000586751.5:c.1496+1G>T
ENST00000587184.5:c.1723+1G>T ENSP00000466557.1:n.1723+1G>T
ENST00000588770.5:n.1296+1G>T
NM_000227.4:c.1891+1G>T NP_000218.3:n.1891+1G>T
NM_001127717.2:c.6550+1G>T NP_001121189.2:n.6550+1G>T
NM_001127718.2:c.1723+1G>T NP_001121190.2:n.1723+1G>T
NM_198129.2:c.6718+1G>T NP_937762.2:n.6718+1G>T
XM_011525978.1:c.6745+1G>T XP_011524280.1:n.6745+1G>T
XM_011525979.1:c.6736+1G>T XP_011524281.1:n.6736+1G>T
XM_011525980.1:c.6727+1G>T XP_011524282.1:n.6727+1G>T
XM_011525981.1:c.6613+1G>T XP_011524283.1:n.6613+1G>T
XM_011525982.1:c.6745+1G>T XP_011524284.1:n.6745+1G>T
XM_011525978.2:c.6745+1G>T XP_011524280.1:n.6745+1G>T
XM_011525979.2:c.6736+1G>T XP_011524281.1:n.6736+1G>T
XM_011525980.2:c.6727+1G>T XP_011524282.1:n.6727+1G>T
XM_011525981.2:c.6613+1G>T XP_011524283.1:n.6613+1G>T
XM_011525982.2:c.6745+1G>T XP_011524284.1:n.6745+1G>T
XM_017025743.1:c.4597+1G>T XP_016881232.1:n.4597+1G>T
XM_017025744.1:c.2287+1G>T XP_016881233.1:n.2287+1G>T
XR_001753199.1:n.6986+1G>T
NM_000227.5:c.1891+1G>T NP_000218.3:n.1891+1G>T
NM_001127717.3:c.6550+1G>T NP_001121189.2:n.6550+1G>T
NM_001127718.3:c.1723+1G>T NP_001121190.2:n.1723+1G>T
NM_198129.3:c.6718+1G>T NP_937762.2:n.6718+1G>T
NM_000227.6:c.1891+1G>T MANE Plus Clinical NP_000218.3:n.1891+1G>T
NM_001127717.4:c.6550+1G>T NP_001121189.2:n.6550+1G>T
NM_001127718.4:c.1723+1G>T NP_001121190.2:n.1723+1G>T
NM_198129.4:c.6718+1G>T MANE Select NP_937762.2:n.6718+1G>T