Canonical Allele Identifier: CA413851116

Gene: COL4A5

Linked Data

• gnomAD v4: X-108680896-C-T
• MyVariant Identifiers: chrX:g.107924126C>T (hg19) ; chrX:g.108680896C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680896C>T , CM000685.2:g.108680896C>T	GRCh38
NC_000023.10:g.107924126C>T , CM000685.1:g.107924126C>T	GRCh37
NC_000023.9:g.107810782C>T	NCBI36
NG_011977.1:g.245973C>T
NG_011977.2:g.245973C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4027C>T MANE Select	ENSP00000331902.7:p.Pro1343Ser
ENST00000361603.7:c.4009C>T	ENSP00000354505.2:p.Pro1337Ser
ENST00000510690.2:n.521C>T
ENST00000328300.10:c.4027C>T	ENSP00000331902.6:p.Pro1343Ser
ENST00000361603.6:c.4009C>T	ENSP00000354505.2:p.Pro1337Ser
ENST00000489230.1:n.430C>T
NM_000495.4:c.4009C>T	NP_000486.1:p.Pro1337Ser
NM_033380.2:c.4027C>T	NP_203699.1:p.Pro1343Ser
XM_005262070.2:c.4018C>T	XP_005262127.1:p.Pro1340Ser
XM_006724616.2:c.4027C>T	XP_006724679.1:p.Pro1343Ser
XM_011530849.1:c.3703C>T	XP_011529151.1:p.Pro1235Ser
XM_011530851.1:c.1600C>T	XP_011529153.1:p.Pro534Ser
XM_011530849.2:c.4042C>T	XP_011529151.2:p.Pro1348Ser
XM_017029259.2:c.4033C>T	XP_016884748.1:p.Pro1345Ser
XM_017029260.1:c.4024C>T	XP_016884749.1:p.Pro1342Ser
XM_017029263.2:c.2362C>T	XP_016884752.1:p.Pro788Ser
NM_000495.5:c.4009C>T	NP_000486.1:p.Pro1337Ser
NM_033380.3:c.4027C>T MANE Select	NP_203699.1:p.Pro1343Ser