Canonical Allele Identifier: CA414132445

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938069T>A (hg19) ; chrX:g.108694839T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694839T>A , CM000685.2:g.108694839T>A	GRCh38
NC_000023.10:g.107938069T>A , CM000685.1:g.107938069T>A	GRCh37
NC_000023.9:g.107824725T>A	NCBI36
NG_011977.1:g.259916T>A
NG_011977.2:g.259916T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4739T>A MANE Select	ENSP00000331902.7:p.Ile1580Asn
ENST00000361603.7:c.4721T>A	ENSP00000354505.2:p.Ile1574Asn
ENST00000510690.2:n.1233T>A
ENST00000644079.1:n.1225T>A
ENST00000328300.10:c.4739T>A	ENSP00000331902.6:p.Ile1580Asn
ENST00000361603.6:c.4721T>A	ENSP00000354505.2:p.Ile1574Asn
ENST00000504541.1:c.137T>A	ENSP00000424845.1:p.Ile46Asn
ENST00000515658.1:c.325-1458T>A
NM_000495.4:c.4721T>A	NP_000486.1:p.Ile1574Asn
NM_033380.2:c.4739T>A	NP_203699.1:p.Ile1580Asn
XM_005262070.2:c.4730T>A	XP_005262127.1:p.Ile1577Asn
XM_006724616.2:c.4739T>A	XP_006724679.1:p.Ile1580Asn
XM_011530849.1:c.4415T>A	XP_011529151.1:p.Ile1472Asn
XM_011530851.1:c.2312T>A	XP_011529153.1:p.Ile771Asn
XM_011530849.2:c.4754T>A	XP_011529151.2:p.Ile1585Asn
XM_017029259.2:c.4745T>A	XP_016884748.1:p.Ile1582Asn
XM_017029260.1:c.4736T>A	XP_016884749.1:p.Ile1579Asn
XM_017029263.2:c.3074T>A	XP_016884752.1:p.Ile1025Asn
NM_000495.5:c.4721T>A	NP_000486.1:p.Ile1574Asn
NM_033380.3:c.4739T>A MANE Select	NP_203699.1:p.Ile1580Asn