Canonical Allele Identifier: CA2450634566

Gene: COL4A5

Linked Data

• dbSNP Id: rs2084743049

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439895T>G , CM000685.2:g.108439895T>G	GRCh38
NC_000023.10:g.107683125T>G , CM000685.1:g.107683125T>G	GRCh37
NC_000023.9:g.107569781T>G	NCBI36
NG_011977.1:g.4972T>G
NG_012059.2:g.4580A>C
NG_011977.2:g.4972T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.-231T>G MANE Select	ENSP00000331902.7:n.-231T>G
ENST00000328300.10:c.-231T>G	ENSP00000331902.6:n.-231T>G
ENST00000361603.6:c.-231T>G	ENSP00000354505.2:n.-231T>G
ENST00000477429.1:n.52T>G
NM_000495.4:c.-231T>G	NP_000486.1:n.-231T>G
NM_033380.2:c.-231T>G	NP_203699.1:n.-231T>G
XM_005262070.2:c.-231T>G	XP_005262127.1:n.-231T>G
XM_005262072.3:c.-231T>G	XP_005262129.1:n.-231T>G
XM_006724616.2:c.-121+100T>G	XP_006724679.1:n.-121+100T>G
XM_011530850.1:c.-231T>G	XP_011529152.1:n.-231T>G
NM_000495.5:c.-231T>G	NP_000486.1:n.-231T>G
NM_033380.3:c.-231T>G MANE Select	NP_203699.1:n.-231T>G