Canonical Allele Identifier: CA414132862
Gene: COL4A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695372A>C , CM000685.2:g.108695372A>C GRCh38
NC_000023.10:g.107938602A>C , CM000685.1:g.107938602A>C GRCh37
NC_000023.9:g.107825258A>C NCBI36
NG_011977.1:g.260449A>C
NG_011977.2:g.260449A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4927A>C MANE Select ENSP00000331902.7:p.Thr1643Pro
ENST00000361603.7:c.4909A>C ENSP00000354505.2:p.Thr1637Pro
ENST00000510690.2:n.1421A>C
ENST00000644079.1:n.1758A>C
ENST00000328300.10:c.4927A>C ENSP00000331902.6:p.Thr1643Pro
ENST00000361603.6:c.4909A>C ENSP00000354505.2:p.Thr1637Pro
ENST00000504541.1:c.219+451A>C ENSP00000424845.1:n.219+451A>C
ENST00000515658.1:c.325-925A>C
NM_000495.4:c.4909A>C NP_000486.1:p.Thr1637Pro
NM_033380.2:c.4927A>C NP_203699.1:p.Thr1643Pro
XM_005262070.2:c.4918A>C XP_005262127.1:p.Thr1640Pro
XM_006724616.2:c.4927A>C XP_006724679.1:p.Thr1643Pro
XM_011530849.1:c.4603A>C XP_011529151.1:p.Thr1535Pro
XM_011530851.1:c.2500A>C XP_011529153.1:p.Thr834Pro
XM_011530849.2:c.4942A>C XP_011529151.2:p.Thr1648Pro
XM_017029259.2:c.4933A>C XP_016884748.1:p.Thr1645Pro
XM_017029260.1:c.4924A>C XP_016884749.1:p.Thr1642Pro
XM_017029263.2:c.3262A>C XP_016884752.1:p.Thr1088Pro
NM_000495.5:c.4909A>C NP_000486.1:p.Thr1637Pro
NM_033380.3:c.4927A>C MANE Select NP_203699.1:p.Thr1643Pro