Canonical Allele Identifier: CA503341357
Community Standard Title: NM_198129.4(LAMA3):c.8613T>C (p.Asn2871=)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23932196T>C , CM000680.2:g.23932196T>C GRCh38
NC_000018.9:g.21512160T>C , CM000680.1:g.21512160T>C GRCh37
NC_000018.8:g.19766158T>C NCBI36
NG_007853.2:g.247599T>C

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.8613T>C MANE Select NP_937762.2:p.Asn2871=
ENST00000313654.14:c.8613T>C MANE Select ENSP00000324532.8:p.Asn2871=
NM_000227.6:c.3786T>C MANE Plus Clinical NP_000218.3:p.Asn1262=
ENST00000269217.11:c.3786T>C MANE Plus Clinical ENSP00000269217.5:p.Asn1262=
NM_000227.4:c.3786T>C NP_000218.3:p.Asn1262=
NM_000227.5:c.3786T>C NP_000218.3:p.Asn1262=
NM_001127717.2:c.8445T>C NP_001121189.2:p.Asn2815=
NM_001127717.3:c.8445T>C NP_001121189.2:p.Asn2815=
NM_001127717.4:c.8445T>C NP_001121189.2:p.Asn2815=
NM_001127718.2:c.3618T>C NP_001121190.2:p.Asn1206=
NM_001127718.3:c.3618T>C NP_001121190.2:p.Asn1206=
NM_001127718.4:c.3618T>C NP_001121190.2:p.Asn1206=
NM_198129.2:c.8613T>C NP_937762.2:p.Asn2871=
NM_198129.3:c.8613T>C NP_937762.2:p.Asn2871=
ENST00000269217.10:c.3786T>C ENSP00000269217.5:p.Asn1262=
ENST00000313654.13:c.8613T>C ENSP00000324532.8:p.Asn2871=
ENST00000399516.7:c.8445T>C ENSP00000382432.2:p.Asn2815=
ENST00000587184.5:c.3618T>C ENSP00000466557.1:p.Asn1206=
ENST00000588770.5:n.3191T>C
ENST00000592442.1:n.84T>C
ENST00000649721.1:c.5208T>C ENSP00000497885.1:p.Asn1736=
XM_011525978.1:c.8640T>C XP_011524280.1:p.Asn2880=
XM_011525978.2:c.8640T>C XP_011524280.1:p.Asn2880=
XM_011525979.1:c.8631T>C XP_011524281.1:p.Asn2877=
XM_011525979.2:c.8631T>C XP_011524281.1:p.Asn2877=
XM_011525980.1:c.8622T>C XP_011524282.1:p.Asn2874=
XM_011525980.2:c.8622T>C XP_011524282.1:p.Asn2874=
XM_011525981.1:c.8508T>C XP_011524283.1:p.Asn2836=
XM_011525981.2:c.8508T>C XP_011524283.1:p.Asn2836=
XM_011525982.1:c.8343T>C XP_011524284.1:p.Asn2781=
XM_011525982.2:c.8343T>C XP_011524284.1:p.Asn2781=
XM_017025743.1:c.6492T>C XP_016881232.1:p.Asn2164=
XM_017025744.1:c.4182T>C XP_016881233.1:p.Asn1394=
XR_001753199.1:n.8881T>C