Canonical Allele Identifier: CA2740097969
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108686017T>G , CM000685.2:g.108686017T>G GRCh38
NC_000023.10:g.107929247T>G , CM000685.1:g.107929247T>G GRCh37
NC_000023.9:g.107815903T>G NCBI36
NG_011977.1:g.251094T>G
NG_011977.2:g.251094T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4217-14T>G MANE Select ENSP00000331902.7:n.4217-14T>G
ENST00000361603.7:c.4199-14T>G ENSP00000354505.2:n.4199-14T>G
ENST00000510690.2:n.711-14T>G
ENST00000328300.10:c.4217-14T>G ENSP00000331902.6:n.4217-14T>G
ENST00000361603.6:c.4199-14T>G ENSP00000354505.2:n.4199-14T>G
ENST00000489230.1:n.620-14T>G
ENST00000515658.1:c.13-14T>G
NM_000495.4:c.4199-14T>G NP_000486.1:n.4199-14T>G
NM_033380.2:c.4217-14T>G NP_203699.1:n.4217-14T>G
XM_005262070.2:c.4208-14T>G XP_005262127.1:n.4208-14T>G
XM_006724616.2:c.4217-14T>G XP_006724679.1:n.4217-14T>G
XM_011530849.1:c.3893-14T>G XP_011529151.1:n.3893-14T>G
XM_011530851.1:c.1790-14T>G XP_011529153.1:n.1790-14T>G
XM_011530849.2:c.4232-14T>G XP_011529151.2:n.4232-14T>G
XM_017029259.2:c.4223-14T>G XP_016884748.1:n.4223-14T>G
XM_017029260.1:c.4214-14T>G XP_016884749.1:n.4214-14T>G
XM_017029263.2:c.2552-14T>G XP_016884752.1:n.2552-14T>G
NM_000495.5:c.4199-14T>G NP_000486.1:n.4199-14T>G
NM_033380.3:c.4217-14T>G MANE Select NP_203699.1:n.4217-14T>G