Canonical Allele Identifier: CA2146180
Community Standard Title: NM_000091.5(COL4A3):c.513C>T (p.Gly171=)
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227248487C>T , CM000664.2:g.227248487C>T GRCh38
NC_000002.11:g.228113203C>T , CM000664.1:g.228113203C>T GRCh37
NC_000002.10:g.227821447C>T NCBI36
NG_011591.1:g.88923C>T , LRG_230:g.88923C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000091.5:c.513C>T (COL4A3) MANE Select NP_000082.2:p.Gly171=
ENST00000396578.8:c.513C>T (COL4A3) MANE Select ENSP00000379823.3:p.Gly171=
NM_000091.4:c.513C>T , LRG_230t1:c.513C>T (COL4A3) NP_000082.2:p.Gly171=
NR_102371.1:n.1593-10313G>A (MFF-DT)
ENST00000396578.7:c.513C>T (COL4A3) ENSP00000379823.3:p.Gly171=
XM_005246276.2:c.513C>T (COL4A3) XP_005246333.1:p.Gly171=
XM_005246277.2:c.513C>T (COL4A3) XP_005246334.1:p.Gly171=
XM_005246277.3:c.513C>T (COL4A3) XP_005246334.1:p.Gly171=
XM_005246280.2:c.513C>T (COL4A3) XP_005246337.1:p.Gly171=
XM_005246280.3:c.513C>T (COL4A3) XP_005246337.1:p.Gly171=
XM_006712245.2:c.513C>T (COL4A3) XP_006712308.1:p.Gly171=
XM_006712245.3:c.513C>T (COL4A3) XP_006712308.1:p.Gly171=
XM_011510555.1:c.513C>T (COL4A3) XP_011508857.1:p.Gly171=
XM_017003295.1:c.513C>T (COL4A3) XP_016858784.1:p.Gly171=
XR_001738601.1:n.651C>T (COL4A3)
XR_241280.2:n.651C>T (COL4A3)
XR_241280.3:n.651C>T (COL4A3)