Canonical Allele Identifier: CA414132975
Gene: COL4A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695421A>T , CM000685.2:g.108695421A>T GRCh38
NC_000023.10:g.107938651A>T , CM000685.1:g.107938651A>T GRCh37
NC_000023.9:g.107825307A>T NCBI36
NG_011977.1:g.260498A>T
NG_011977.2:g.260498A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4976A>T MANE Select ENSP00000331902.7:p.Asp1659Val
ENST00000361603.7:c.4958A>T ENSP00000354505.2:p.Asp1653Val
ENST00000510690.2:n.1470A>T
ENST00000644079.1:n.1807A>T
ENST00000328300.10:c.4976A>T ENSP00000331902.6:p.Asp1659Val
ENST00000361603.6:c.4958A>T ENSP00000354505.2:p.Asp1653Val
ENST00000504541.1:c.219+500A>T ENSP00000424845.1:n.219+500A>T
ENST00000515658.1:c.325-876A>T
NM_000495.4:c.4958A>T NP_000486.1:p.Asp1653Val
NM_033380.2:c.4976A>T NP_203699.1:p.Asp1659Val
XM_005262070.2:c.4967A>T XP_005262127.1:p.Asp1656Val
XM_006724616.2:c.4976A>T XP_006724679.1:p.Asp1659Val
XM_011530849.1:c.4652A>T XP_011529151.1:p.Asp1551Val
XM_011530851.1:c.2549A>T XP_011529153.1:p.Asp850Val
XM_011530849.2:c.4991A>T XP_011529151.2:p.Asp1664Val
XM_017029259.2:c.4982A>T XP_016884748.1:p.Asp1661Val
XM_017029260.1:c.4973A>T XP_016884749.1:p.Asp1658Val
XM_017029263.2:c.3311A>T XP_016884752.1:p.Asp1104Val
NM_000495.5:c.4958A>T NP_000486.1:p.Asp1653Val
NM_033380.3:c.4976A>T MANE Select NP_203699.1:p.Asp1659Val