Canonical Allele Identifier: CA414132999
Gene: COL4A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695433T>A , CM000685.2:g.108695433T>A GRCh38
NC_000023.10:g.107938663T>A , CM000685.1:g.107938663T>A GRCh37
NC_000023.9:g.107825319T>A NCBI36
NG_011977.1:g.260510T>A
NG_011977.2:g.260510T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4988T>A MANE Select ENSP00000331902.7:p.Met1663Lys
ENST00000361603.7:c.4970T>A ENSP00000354505.2:p.Met1657Lys
ENST00000510690.2:n.1482T>A
ENST00000644079.1:n.1819T>A
ENST00000328300.10:c.4988T>A ENSP00000331902.6:p.Met1663Lys
ENST00000361603.6:c.4970T>A ENSP00000354505.2:p.Met1657Lys
ENST00000504541.1:c.219+512T>A ENSP00000424845.1:n.219+512T>A
ENST00000515658.1:c.325-864T>A
NM_000495.4:c.4970T>A NP_000486.1:p.Met1657Lys
NM_033380.2:c.4988T>A NP_203699.1:p.Met1663Lys
XM_005262070.2:c.4979T>A XP_005262127.1:p.Met1660Lys
XM_006724616.2:c.4988T>A XP_006724679.1:p.Met1663Lys
XM_011530849.1:c.4664T>A XP_011529151.1:p.Met1555Lys
XM_011530851.1:c.2561T>A XP_011529153.1:p.Met854Lys
XM_011530849.2:c.5003T>A XP_011529151.2:p.Met1668Lys
XM_017029259.2:c.4994T>A XP_016884748.1:p.Met1665Lys
XM_017029260.1:c.4985T>A XP_016884749.1:p.Met1662Lys
XM_017029263.2:c.3323T>A XP_016884752.1:p.Met1108Lys
NM_000495.5:c.4970T>A NP_000486.1:p.Met1657Lys
NM_033380.3:c.4988T>A MANE Select NP_203699.1:p.Met1663Lys