Canonical Allele Identifier: CA2842147078
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108440121G>T , CM000685.2:g.108440121G>T GRCh38
NC_000023.10:g.107683351G>T , CM000685.1:g.107683351G>T GRCh37
NC_000023.9:g.107570007G>T NCBI36
NG_011977.1:g.5198G>T
NG_012059.2:g.4354C>A
NG_011977.2:g.5198G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.-5G>T MANE Select ENSP00000331902.7:n.-5G>T
ENST00000361603.7:c.-5G>T ENSP00000354505.2:n.-5G>T
ENST00000642185.1:c.-5G>T ENSP00000495101.1:n.-5G>T
ENST00000328300.10:c.-5G>T ENSP00000331902.6:n.-5G>T
ENST00000361603.6:c.-5G>T ENSP00000354505.2:n.-5G>T
ENST00000470339.1:n.180G>T
ENST00000477429.1:n.278G>T
NM_000495.4:c.-5G>T NP_000486.1:n.-5G>T
NM_033380.2:c.-5G>T NP_203699.1:n.-5G>T
XM_005262070.2:c.-5G>T XP_005262127.1:n.-5G>T
XM_005262072.3:c.-5G>T XP_005262129.1:n.-5G>T
XM_006724616.2:c.-5G>T XP_006724679.1:n.-5G>T
XM_011530850.1:c.-5G>T XP_011529152.1:n.-5G>T
NM_000495.5:c.-5G>T NP_000486.1:n.-5G>T
NM_033380.3:c.-5G>T MANE Select NP_203699.1:n.-5G>T