Canonical Allele Identifier: CA2450634557
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108439878G= , CM000685.2:g.108439878G= GRCh38
NC_000023.10:g.107683108G= , CM000685.1:g.107683108G= GRCh37
NC_000023.9:g.107569764G= NCBI36
NG_011977.1:g.4955G=
NG_012059.2:g.4597C=
NG_011977.2:g.4955G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.-248G= MANE Select ENSP00000331902.7:n.-248G=
ENST00000477429.1:n.35G=
NM_000495.4:c.-248G= NP_000486.1:n.-248G=
NM_033380.2:c.-248G= NP_203699.1:n.-248G=
XM_005262070.2:c.-248G= XP_005262127.1:n.-248G=
XM_005262072.3:c.-248G= XP_005262129.1:n.-248G=
XM_006724616.2:c.-121+83G= XP_006724679.1:n.-121+83G=
XM_011530850.1:c.-248G= XP_011529152.1:n.-248G=
NM_000495.5:c.-248G= NP_000486.1:n.-248G=
NM_033380.3:c.-248G= MANE Select NP_203699.1:n.-248G=