Canonical Allele Identifier: CA8916982
Community Standard Title: NM_198129.4(LAMA3):c.8664C>T (p.Gly2888=)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23932247C>T , CM000680.2:g.23932247C>T GRCh38
NC_000018.9:g.21512211C>T , CM000680.1:g.21512211C>T GRCh37
NC_000018.8:g.19766209C>T NCBI36
NG_007853.2:g.247650C>T

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.8664C>T MANE Select NP_937762.2:p.Gly2888=
ENST00000313654.14:c.8664C>T MANE Select ENSP00000324532.8:p.Gly2888=
NM_000227.6:c.3837C>T MANE Plus Clinical NP_000218.3:p.Gly1279=
ENST00000269217.11:c.3837C>T MANE Plus Clinical ENSP00000269217.5:p.Gly1279=
NM_000227.4:c.3837C>T NP_000218.3:p.Gly1279=
NM_000227.5:c.3837C>T NP_000218.3:p.Gly1279=
NM_001127717.2:c.8496C>T NP_001121189.2:p.Gly2832=
NM_001127717.3:c.8496C>T NP_001121189.2:p.Gly2832=
NM_001127717.4:c.8496C>T NP_001121189.2:p.Gly2832=
NM_001127718.2:c.3669C>T NP_001121190.2:p.Gly1223=
NM_001127718.3:c.3669C>T NP_001121190.2:p.Gly1223=
NM_001127718.4:c.3669C>T NP_001121190.2:p.Gly1223=
NM_198129.2:c.8664C>T NP_937762.2:p.Gly2888=
NM_198129.3:c.8664C>T NP_937762.2:p.Gly2888=
ENST00000269217.10:c.3837C>T ENSP00000269217.5:p.Gly1279=
ENST00000313654.13:c.8664C>T ENSP00000324532.8:p.Gly2888=
ENST00000399516.7:c.8496C>T ENSP00000382432.2:p.Gly2832=
ENST00000587184.5:c.3669C>T ENSP00000466557.1:p.Gly1223=
ENST00000588770.5:n.3242C>T
ENST00000592442.1:n.135C>T
ENST00000649721.1:c.5259C>T ENSP00000497885.1:p.Gly1753=
XM_011525978.1:c.8691C>T XP_011524280.1:p.Gly2897=
XM_011525978.2:c.8691C>T XP_011524280.1:p.Gly2897=
XM_011525979.1:c.8682C>T XP_011524281.1:p.Gly2894=
XM_011525979.2:c.8682C>T XP_011524281.1:p.Gly2894=
XM_011525980.1:c.8673C>T XP_011524282.1:p.Gly2891=
XM_011525980.2:c.8673C>T XP_011524282.1:p.Gly2891=
XM_011525981.1:c.8559C>T XP_011524283.1:p.Gly2853=
XM_011525981.2:c.8559C>T XP_011524283.1:p.Gly2853=
XM_011525982.1:c.8394C>T XP_011524284.1:p.Gly2798=
XM_011525982.2:c.8394C>T XP_011524284.1:p.Gly2798=
XM_017025743.1:c.6543C>T XP_016881232.1:p.Gly2181=
XM_017025744.1:c.4233C>T XP_016881233.1:p.Gly1411=
XR_001753199.1:n.8932C>T