Canonical Allele Identifier: CA8915632

Gene: LAMA3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23861742C>T , CM000680.2:g.23861742C>T	GRCh38
NC_000018.9:g.21441706C>T , CM000680.1:g.21441706C>T	GRCh37
NC_000018.8:g.19695704C>T	NCBI36
NG_007853.2:g.177145C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_198129.4:c.4519C>T MANE Select	NP_937762.2:p.Gln1507Ter
ENST00000313654.14:c.4519C>T MANE Select	ENSP00000324532.8:p.Gln1507Ter
NM_001127717.2:c.4519C>T	NP_001121189.2:p.Gln1507Ter
NM_001127717.3:c.4519C>T	NP_001121189.2:p.Gln1507Ter
NM_001127717.4:c.4519C>T	NP_001121189.2:p.Gln1507Ter
NM_198129.2:c.4519C>T	NP_937762.2:p.Gln1507Ter
NM_198129.3:c.4519C>T	NP_937762.2:p.Gln1507Ter
ENST00000313654.13:c.4519C>T	ENSP00000324532.8:p.Gln1507Ter
ENST00000399516.7:c.4519C>T	ENSP00000382432.2:p.Gln1507Ter
ENST00000649721.1:c.1411C>T	ENSP00000497885.1:p.Gln471Ter
XM_011525978.1:c.4546C>T	XP_011524280.1:p.Gln1516Ter
XM_011525978.2:c.4546C>T	XP_011524280.1:p.Gln1516Ter
XM_011525979.1:c.4537C>T	XP_011524281.1:p.Gln1513Ter
XM_011525979.2:c.4537C>T	XP_011524281.1:p.Gln1513Ter
XM_011525980.1:c.4528C>T	XP_011524282.1:p.Gln1510Ter
XM_011525980.2:c.4528C>T	XP_011524282.1:p.Gln1510Ter
XM_011525981.1:c.4414C>T	XP_011524283.1:p.Gln1472Ter
XM_011525981.2:c.4414C>T	XP_011524283.1:p.Gln1472Ter
XM_011525982.1:c.4546C>T	XP_011524284.1:p.Gln1516Ter
XM_011525982.2:c.4546C>T	XP_011524284.1:p.Gln1516Ter
XM_017025743.1:c.2398C>T	XP_016881232.1:p.Gln800Ter
XM_017025744.1:c.88C>T	XP_016881233.1:p.Gln30Ter
XR_001753199.1:n.4787C>T