Canonical Allele Identifier: CA413851195

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107924165C>A (hg19) ; chrX:g.108680935C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680935C>A , CM000685.2:g.108680935C>A	GRCh38
NC_000023.10:g.107924165C>A , CM000685.1:g.107924165C>A	GRCh37
NC_000023.9:g.107810821C>A	NCBI36
NG_011977.1:g.246012C>A
NG_011977.2:g.246012C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4066C>A MANE Select	ENSP00000331902.7:p.Pro1356Thr
ENST00000361603.7:c.4048C>A	ENSP00000354505.2:p.Pro1350Thr
ENST00000510690.2:n.560C>A
ENST00000328300.10:c.4066C>A	ENSP00000331902.6:p.Pro1356Thr
ENST00000361603.6:c.4048C>A	ENSP00000354505.2:p.Pro1350Thr
ENST00000489230.1:n.469C>A
NM_000495.4:c.4048C>A	NP_000486.1:p.Pro1350Thr
NM_033380.2:c.4066C>A	NP_203699.1:p.Pro1356Thr
XM_005262070.2:c.4057C>A	XP_005262127.1:p.Pro1353Thr
XM_006724616.2:c.4066C>A	XP_006724679.1:p.Pro1356Thr
XM_011530849.1:c.3742C>A	XP_011529151.1:p.Pro1248Thr
XM_011530851.1:c.1639C>A	XP_011529153.1:p.Pro547Thr
XM_011530849.2:c.4081C>A	XP_011529151.2:p.Pro1361Thr
XM_017029259.2:c.4072C>A	XP_016884748.1:p.Pro1358Thr
XM_017029260.1:c.4063C>A	XP_016884749.1:p.Pro1355Thr
XM_017029263.2:c.2401C>A	XP_016884752.1:p.Pro801Thr
NM_000495.5:c.4048C>A	NP_000486.1:p.Pro1350Thr
NM_033380.3:c.4066C>A MANE Select	NP_203699.1:p.Pro1356Thr