Canonical Allele Identifier: CA2450634555
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108439877T= , CM000685.2:g.108439877T= GRCh38
NC_000023.10:g.107683107T= , CM000685.1:g.107683107T= GRCh37
NC_000023.9:g.107569763T= NCBI36
NG_011977.1:g.4954T=
NG_012059.2:g.4598A=
NG_011977.2:g.4954T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.-249T= MANE Select ENSP00000331902.7:n.-249T=
ENST00000477429.1:n.34T=
NM_000495.4:c.-249T= NP_000486.1:n.-249T=
NM_033380.2:c.-249T= NP_203699.1:n.-249T=
XM_005262070.2:c.-249T= XP_005262127.1:n.-249T=
XM_005262072.3:c.-249T= XP_005262129.1:n.-249T=
XM_006724616.2:c.-121+82T= XP_006724679.1:n.-121+82T=
XM_011530850.1:c.-249T= XP_011529152.1:n.-249T=
NM_000495.5:c.-249T= NP_000486.1:n.-249T=
NM_033380.3:c.-249T= MANE Select NP_203699.1:n.-249T=