Canonical Allele Identifier: CA414133163
Gene: COL4A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108696361T>A , CM000685.2:g.108696361T>A GRCh38
NC_000023.10:g.107939591T>A , CM000685.1:g.107939591T>A GRCh37
NC_000023.9:g.107826247T>A NCBI36
NG_011977.1:g.261438T>A
NG_011977.2:g.261438T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.5059T>A MANE Select ENSP00000331902.7:p.Cys1687Ser
ENST00000361603.7:c.5041T>A ENSP00000354505.2:p.Cys1681Ser
ENST00000510690.2:n.1553T>A
ENST00000644079.1:n.2747T>A
ENST00000328300.10:c.5059T>A ENSP00000331902.6:p.Cys1687Ser
ENST00000361603.6:c.5041T>A ENSP00000354505.2:p.Cys1681Ser
ENST00000504541.1:c.284T>A ENSP00000424845.1:n.284T>A
ENST00000515658.1:c.389T>A
NM_000495.4:c.5041T>A NP_000486.1:p.Cys1681Ser
NM_033380.2:c.5059T>A NP_203699.1:p.Cys1687Ser
XM_005262070.2:c.5050T>A XP_005262127.1:p.Cys1684Ser
XM_006724616.2:c.5059T>A XP_006724679.1:p.Cys1687Ser
XM_011530849.1:c.4735T>A XP_011529151.1:p.Cys1579Ser
XM_011530851.1:c.2632T>A XP_011529153.1:p.Cys878Ser
XM_011530849.2:c.5074T>A XP_011529151.2:p.Cys1692Ser
XM_017029259.2:c.5065T>A XP_016884748.1:p.Cys1689Ser
XM_017029260.1:c.5056T>A XP_016884749.1:p.Cys1686Ser
XM_017029263.2:c.3394T>A XP_016884752.1:p.Cys1132Ser
NM_000495.5:c.5041T>A NP_000486.1:p.Cys1681Ser
NM_033380.3:c.5059T>A MANE Select NP_203699.1:p.Cys1687Ser