Canonical Allele Identifier: CA2450721767
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695383C= , CM000685.2:g.108695383C= GRCh38
NC_000023.10:g.107938613C= , CM000685.1:g.107938613C= GRCh37
NC_000023.9:g.107825269C= NCBI36
NG_011977.1:g.260460C=
NG_011977.2:g.260460C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4938C= MANE Select ENSP00000331902.7:p.Tyr1646=
ENST00000361603.7:c.4920C= ENSP00000354505.2:p.Tyr1640=
ENST00000510690.2:n.1432C=
ENST00000644079.1:n.1769C=
ENST00000328300.10:c.4938C= ENSP00000331902.6:p.Tyr1646=
ENST00000361603.6:c.4920C= ENSP00000354505.2:p.Tyr1640=
ENST00000504541.1:c.219+462C= ENSP00000424845.1:n.219+462C=
ENST00000515658.1:c.325-914C=
NM_000495.4:c.4920C= NP_000486.1:p.Tyr1640=
NM_033380.2:c.4938C= NP_203699.1:p.Tyr1646=
XM_005262070.2:c.4929C= XP_005262127.1:p.Tyr1643=
XM_006724616.2:c.4938C= XP_006724679.1:p.Tyr1646=
XM_011530849.1:c.4614C= XP_011529151.1:p.Tyr1538=
XM_011530851.1:c.2511C= XP_011529153.1:p.Tyr837=
XM_011530849.2:c.4953C= XP_011529151.2:p.Tyr1651=
XM_017029259.2:c.4944C= XP_016884748.1:p.Tyr1648=
XM_017029260.1:c.4935C= XP_016884749.1:p.Tyr1645=
XM_017029263.2:c.3273C= XP_016884752.1:p.Tyr1091=
NM_000495.5:c.4920C= NP_000486.1:p.Tyr1640=
NM_033380.3:c.4938C= MANE Select NP_203699.1:p.Tyr1646=