Canonical Allele Identifier: CA2450721765
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695378A= , CM000685.2:g.108695378A= GRCh38
NC_000023.10:g.107938608A= , CM000685.1:g.107938608A= GRCh37
NC_000023.9:g.107825264A= NCBI36
NG_011977.1:g.260455A=
NG_011977.2:g.260455A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4933A= MANE Select ENSP00000331902.7:p.Asn1645=
ENST00000361603.7:c.4915A= ENSP00000354505.2:p.Asn1639=
ENST00000510690.2:n.1427A=
ENST00000644079.1:n.1764A=
ENST00000328300.10:c.4933A= ENSP00000331902.6:p.Asn1645=
ENST00000361603.6:c.4915A= ENSP00000354505.2:p.Asn1639=
ENST00000504541.1:c.219+457A= ENSP00000424845.1:n.219+457A=
ENST00000515658.1:c.325-919A=
NM_000495.4:c.4915A= NP_000486.1:p.Asn1639=
NM_033380.2:c.4933A= NP_203699.1:p.Asn1645=
XM_005262070.2:c.4924A= XP_005262127.1:p.Asn1642=
XM_006724616.2:c.4933A= XP_006724679.1:p.Asn1645=
XM_011530849.1:c.4609A= XP_011529151.1:p.Asn1537=
XM_011530851.1:c.2506A= XP_011529153.1:p.Asn836=
XM_011530849.2:c.4948A= XP_011529151.2:p.Asn1650=
XM_017029259.2:c.4939A= XP_016884748.1:p.Asn1647=
XM_017029260.1:c.4930A= XP_016884749.1:p.Asn1644=
XM_017029263.2:c.3268A= XP_016884752.1:p.Asn1090=
NM_000495.5:c.4915A= NP_000486.1:p.Asn1639=
NM_033380.3:c.4933A= MANE Select NP_203699.1:p.Asn1645=