Canonical Allele Identifier: CA413857455
Gene: COL4A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108655403G>C , CM000685.2:g.108655403G>C GRCh38
NC_000023.10:g.107898633G>C , CM000685.1:g.107898633G>C GRCh37
NC_000023.9:g.107785289G>C NCBI36
NG_011977.1:g.220480G>C
NG_011977.2:g.220480G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.3319G>C MANE Select ENSP00000331902.7:p.Gly1107Arg
ENST00000361603.7:c.3319G>C ENSP00000354505.2:p.Gly1107Arg
ENST00000328300.10:c.3319G>C ENSP00000331902.6:p.Gly1107Arg
ENST00000361603.6:c.3319G>C ENSP00000354505.2:p.Gly1107Arg
NM_000495.4:c.3319G>C NP_000486.1:p.Gly1107Arg
NM_033380.2:c.3319G>C NP_203699.1:p.Gly1107Arg
XM_005262070.2:c.3319G>C XP_005262127.1:p.Gly1107Arg
XM_006724616.2:c.3319G>C XP_006724679.1:p.Gly1107Arg
XM_011530849.1:c.2995G>C XP_011529151.1:p.Gly999Arg
XM_011530850.1:c.3319G>C XP_011529152.1:p.Gly1107Arg
XM_011530851.1:c.892G>C XP_011529153.1:p.Gly298Arg
XM_011530849.2:c.3334G>C XP_011529151.2:p.Gly1112Arg
XM_017029259.2:c.3334G>C XP_016884748.1:p.Gly1112Arg
XM_017029260.1:c.3334G>C XP_016884749.1:p.Gly1112Arg
XM_017029261.1:c.3334G>C XP_016884750.1:p.Gly1112Arg
XM_017029262.2:c.3334G>C XP_016884751.1:p.Gly1112Arg
XM_017029263.2:c.1654G>C XP_016884752.1:p.Gly552Arg
NM_000495.5:c.3319G>C NP_000486.1:p.Gly1107Arg
NM_033380.3:c.3319G>C MANE Select NP_203699.1:p.Gly1107Arg