Canonical Allele Identifier: CA8916808
Community Standard Title: NM_198129.4(LAMA3):c.8028C>T (p.Asn2676=)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23921039C>T , CM000680.2:g.23921039C>T GRCh38
NC_000018.9:g.21501003C>T , CM000680.1:g.21501003C>T GRCh37
NC_000018.8:g.19755001C>T NCBI36
NG_007853.2:g.236442C>T

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.8028C>T MANE Select NP_937762.2:p.Asn2676=
ENST00000313654.14:c.8028C>T MANE Select ENSP00000324532.8:p.Asn2676=
NM_000227.6:c.3201C>T MANE Plus Clinical NP_000218.3:p.Asn1067=
ENST00000269217.11:c.3201C>T MANE Plus Clinical ENSP00000269217.5:p.Asn1067=
NM_000227.4:c.3201C>T NP_000218.3:p.Asn1067=
NM_000227.5:c.3201C>T NP_000218.3:p.Asn1067=
NM_001127717.2:c.7860C>T NP_001121189.2:p.Asn2620=
NM_001127717.3:c.7860C>T NP_001121189.2:p.Asn2620=
NM_001127717.4:c.7860C>T NP_001121189.2:p.Asn2620=
NM_001127718.2:c.3033C>T NP_001121190.2:p.Asn1011=
NM_001127718.3:c.3033C>T NP_001121190.2:p.Asn1011=
NM_001127718.4:c.3033C>T NP_001121190.2:p.Asn1011=
NM_198129.2:c.8028C>T NP_937762.2:p.Asn2676=
NM_198129.3:c.8028C>T NP_937762.2:p.Asn2676=
ENST00000269217.10:c.3201C>T ENSP00000269217.5:p.Asn1067=
ENST00000313654.13:c.8028C>T ENSP00000324532.8:p.Asn2676=
ENST00000399516.7:c.7860C>T ENSP00000382432.2:p.Asn2620=
ENST00000586751.5:c.2806C>T
ENST00000587184.5:c.3033C>T ENSP00000466557.1:p.Asn1011=
ENST00000588770.5:n.2606C>T
ENST00000649721.1:c.4623C>T ENSP00000497885.1:p.Asn1541=
XM_011525978.1:c.8055C>T XP_011524280.1:p.Asn2685=
XM_011525978.2:c.8055C>T XP_011524280.1:p.Asn2685=
XM_011525979.1:c.8046C>T XP_011524281.1:p.Asn2682=
XM_011525979.2:c.8046C>T XP_011524281.1:p.Asn2682=
XM_011525980.1:c.8037C>T XP_011524282.1:p.Asn2679=
XM_011525980.2:c.8037C>T XP_011524282.1:p.Asn2679=
XM_011525981.1:c.7923C>T XP_011524283.1:p.Asn2641=
XM_011525981.2:c.7923C>T XP_011524283.1:p.Asn2641=
XM_011525982.1:c.7758C>T XP_011524284.1:p.Asn2586=
XM_011525982.2:c.7758C>T XP_011524284.1:p.Asn2586=
XM_017025743.1:c.5907C>T XP_016881232.1:p.Asn1969=
XM_017025744.1:c.3597C>T XP_016881233.1:p.Asn1199=
XR_001753199.1:n.8296C>T