Canonical Allele Identifier: CA414132876
Gene: COL4A5 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4933A>T MANE Select ENSP00000331902.7:p.Asn1645Tyr
ENST00000361603.7:c.4915A>T ENSP00000354505.2:p.Asn1639Tyr
ENST00000510690.2:n.1427A>T
ENST00000644079.1:n.1764A>T
ENST00000328300.10:c.4933A>T ENSP00000331902.6:p.Asn1645Tyr
ENST00000361603.6:c.4915A>T ENSP00000354505.2:p.Asn1639Tyr
ENST00000504541.1:c.219+457A>T ENSP00000424845.1:n.219+457A>T
ENST00000515658.1:c.325-919A>T
NM_000495.4:c.4915A>T NP_000486.1:p.Asn1639Tyr
NM_033380.2:c.4933A>T NP_203699.1:p.Asn1645Tyr
XM_005262070.2:c.4924A>T XP_005262127.1:p.Asn1642Tyr
XM_006724616.2:c.4933A>T XP_006724679.1:p.Asn1645Tyr
XM_011530849.1:c.4609A>T XP_011529151.1:p.Asn1537Tyr
XM_011530851.1:c.2506A>T XP_011529153.1:p.Asn836Tyr
XM_011530849.2:c.4948A>T XP_011529151.2:p.Asn1650Tyr
XM_017029259.2:c.4939A>T XP_016884748.1:p.Asn1647Tyr
XM_017029260.1:c.4930A>T XP_016884749.1:p.Asn1644Tyr
XM_017029263.2:c.3268A>T XP_016884752.1:p.Asn1090Tyr
NM_000495.5:c.4915A>T NP_000486.1:p.Asn1639Tyr
NM_033380.3:c.4933A>T MANE Select NP_203699.1:p.Asn1645Tyr