Canonical Allele Identifier: CA413905915

Gene: COL4A5

Linked Data

• dbSNP Id: rs2064372077
• MyVariant Identifiers: chrX:g.107683378T>G (hg19) ; chrX:g.108440148T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108440148T>G , CM000685.2:g.108440148T>G	GRCh38
NC_000023.10:g.107683378T>G , CM000685.1:g.107683378T>G	GRCh37
NC_000023.9:g.107570034T>G	NCBI36
NG_011977.1:g.5225T>G
NG_012059.2:g.4327A>C
NG_011977.2:g.5225T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.23T>G MANE Select	ENSP00000331902.7:p.Leu8Arg
ENST00000361603.7:c.23T>G	ENSP00000354505.2:p.Leu8Arg
ENST00000642185.1:c.23T>G	ENSP00000495101.1:p.Leu8Arg
ENST00000328300.10:c.23T>G	ENSP00000331902.6:p.Leu8Arg
ENST00000361603.6:c.23T>G	ENSP00000354505.2:p.Leu8Arg
ENST00000470339.1:n.207T>G
ENST00000477429.1:n.305T>G
NM_000495.4:c.23T>G	NP_000486.1:p.Leu8Arg
NM_033380.2:c.23T>G	NP_203699.1:p.Leu8Arg
XM_005262070.2:c.23T>G	XP_005262127.1:p.Leu8Arg
XM_005262072.3:c.23T>G	XP_005262129.1:p.Leu8Arg
XM_006724616.2:c.23T>G	XP_006724679.1:p.Leu8Arg
XM_011530850.1:c.23T>G	XP_011529152.1:p.Leu8Arg
NM_000495.5:c.23T>G	NP_000486.1:p.Leu8Arg
NM_033380.3:c.23T>G MANE Select	NP_203699.1:p.Leu8Arg