Canonical Allele Identifier: CA334054834
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886267

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108680956G>T , CM000685.2:g.108680956G>T GRCh38
NC_000023.10:g.107924186G>T , CM000685.1:g.107924186G>T GRCh37
NC_000023.9:g.107810842G>T NCBI36
NG_011977.1:g.246033G>T
NG_011977.2:g.246033G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4087G>T MANE Select ENSP00000331902.7:p.Gly1363Cys
ENST00000361603.7:c.4069G>T ENSP00000354505.2:p.Gly1357Cys
ENST00000510690.2:n.581G>T
ENST00000328300.10:c.4087G>T ENSP00000331902.6:p.Gly1363Cys
ENST00000361603.6:c.4069G>T ENSP00000354505.2:p.Gly1357Cys
ENST00000489230.1:n.490G>T
NM_000495.4:c.4069G>T NP_000486.1:p.Gly1357Cys
NM_033380.2:c.4087G>T NP_203699.1:p.Gly1363Cys
XM_005262070.2:c.4078G>T XP_005262127.1:p.Gly1360Cys
XM_006724616.2:c.4087G>T XP_006724679.1:p.Gly1363Cys
XM_011530849.1:c.3763G>T XP_011529151.1:p.Gly1255Cys
XM_011530851.1:c.1660G>T XP_011529153.1:p.Gly554Cys
XM_011530849.2:c.4102G>T XP_011529151.2:p.Gly1368Cys
XM_017029259.2:c.4093G>T XP_016884748.1:p.Gly1365Cys
XM_017029260.1:c.4084G>T XP_016884749.1:p.Gly1362Cys
XM_017029263.2:c.2422G>T XP_016884752.1:p.Gly808Cys
NM_000495.5:c.4069G>T NP_000486.1:p.Gly1357Cys
NM_033380.3:c.4087G>T MANE Select NP_203699.1:p.Gly1363Cys