Canonical Allele Identifier: CA334063393
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1330806
dbSNP Id: rs937985430

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695382A>G , CM000685.2:g.108695382A>G GRCh38
NC_000023.10:g.107938612A>G , CM000685.1:g.107938612A>G GRCh37
NC_000023.9:g.107825268A>G NCBI36
NG_011977.1:g.260459A>G
NG_011977.2:g.260459A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4937A>G MANE Select ENSP00000331902.7:p.Tyr1646Cys
ENST00000361603.7:c.4919A>G ENSP00000354505.2:p.Tyr1640Cys
ENST00000510690.2:n.1431A>G
ENST00000644079.1:n.1768A>G
ENST00000328300.10:c.4937A>G ENSP00000331902.6:p.Tyr1646Cys
ENST00000361603.6:c.4919A>G ENSP00000354505.2:p.Tyr1640Cys
ENST00000504541.1:c.219+461A>G ENSP00000424845.1:n.219+461A>G
ENST00000515658.1:c.325-915A>G
NM_000495.4:c.4919A>G NP_000486.1:p.Tyr1640Cys
NM_033380.2:c.4937A>G NP_203699.1:p.Tyr1646Cys
XM_005262070.2:c.4928A>G XP_005262127.1:p.Tyr1643Cys
XM_006724616.2:c.4937A>G XP_006724679.1:p.Tyr1646Cys
XM_011530849.1:c.4613A>G XP_011529151.1:p.Tyr1538Cys
XM_011530851.1:c.2510A>G XP_011529153.1:p.Tyr837Cys
XM_011530849.2:c.4952A>G XP_011529151.2:p.Tyr1651Cys
XM_017029259.2:c.4943A>G XP_016884748.1:p.Tyr1648Cys
XM_017029260.1:c.4934A>G XP_016884749.1:p.Tyr1645Cys
XM_017029263.2:c.3272A>G XP_016884752.1:p.Tyr1091Cys
NM_000495.5:c.4919A>G NP_000486.1:p.Tyr1640Cys
NM_033380.3:c.4937A>G MANE Select NP_203699.1:p.Tyr1646Cys