Canonical Allele Identifier: CA413850450

Gene: COL4A5

Linked Data

• gnomAD v4: X-108677577-C-G
• MyVariant Identifiers: chrX:g.107920807C>G (hg19) ; chrX:g.108677577C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108677577C>G , CM000685.2:g.108677577C>G	GRCh38
NC_000023.10:g.107920807C>G , CM000685.1:g.107920807C>G	GRCh37
NC_000023.9:g.107807463C>G	NCBI36
NG_011977.1:g.242654C>G
NG_011977.2:g.242654C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3886C>G MANE Select	ENSP00000331902.7:p.Pro1296Ala
ENST00000361603.7:c.3868C>G	ENSP00000354505.2:p.Pro1290Ala
ENST00000510690.2:n.380C>G
ENST00000328300.10:c.3886C>G	ENSP00000331902.6:p.Pro1296Ala
ENST00000361603.6:c.3868C>G	ENSP00000354505.2:p.Pro1290Ala
ENST00000489230.1:n.289C>G
ENST00000510690.1:n.380C>G
NM_000495.4:c.3868C>G	NP_000486.1:p.Pro1290Ala
NM_033380.2:c.3886C>G	NP_203699.1:p.Pro1296Ala
XM_005262070.2:c.3877C>G	XP_005262127.1:p.Pro1293Ala
XM_006724616.2:c.3886C>G	XP_006724679.1:p.Pro1296Ala
XM_011530849.1:c.3562C>G	XP_011529151.1:p.Pro1188Ala
XM_011530851.1:c.1459C>G	XP_011529153.1:p.Pro487Ala
XM_011530849.2:c.3901C>G	XP_011529151.2:p.Pro1301Ala
XM_017029259.2:c.3892C>G	XP_016884748.1:p.Pro1298Ala
XM_017029260.1:c.3883C>G	XP_016884749.1:p.Pro1295Ala
XM_017029261.1:c.3901C>G	XP_016884750.1:p.Pro1301Ala
XM_017029263.2:c.2221C>G	XP_016884752.1:p.Pro741Ala
NM_000495.5:c.3868C>G	NP_000486.1:p.Pro1290Ala
NM_033380.3:c.3886C>G MANE Select	NP_203699.1:p.Pro1296Ala