Canonical Allele Identifier: CA2842147071
Gene: COL4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108440078C>G , CM000685.2:g.108440078C>G GRCh38
NC_000023.10:g.107683308C>G , CM000685.1:g.107683308C>G GRCh37
NC_000023.9:g.107569964C>G NCBI36
NG_011977.1:g.5155C>G
NG_012059.2:g.4397G>C
NG_011977.2:g.5155C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.-48C>G MANE Select ENSP00000331902.7:n.-48C>G
ENST00000361603.7:c.-48C>G ENSP00000354505.2:n.-48C>G
ENST00000642185.1:c.-48C>G ENSP00000495101.1:n.-48C>G
ENST00000328300.10:c.-48C>G ENSP00000331902.6:n.-48C>G
ENST00000361603.6:c.-48C>G ENSP00000354505.2:n.-48C>G
ENST00000470339.1:n.137C>G
ENST00000477429.1:n.235C>G
NM_000495.4:c.-48C>G NP_000486.1:n.-48C>G
NM_033380.2:c.-48C>G NP_203699.1:n.-48C>G
XM_005262070.2:c.-48C>G XP_005262127.1:n.-48C>G
XM_005262072.3:c.-48C>G XP_005262129.1:n.-48C>G
XM_006724616.2:c.-48C>G XP_006724679.1:n.-48C>G
XM_011530850.1:c.-48C>G XP_011529152.1:n.-48C>G
NM_000495.5:c.-48C>G NP_000486.1:n.-48C>G
NM_033380.3:c.-48C>G MANE Select NP_203699.1:n.-48C>G