Canonical Allele Identifier: CA413853767

Gene: COL4A5

Linked Data

• gnomAD v4: X-108686108-C-A
• MyVariant Identifiers: chrX:g.107929338C>A (hg19) ; chrX:g.108686108C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686108C>A , CM000685.2:g.108686108C>A	GRCh38
NC_000023.10:g.107929338C>A , CM000685.1:g.107929338C>A	GRCh37
NC_000023.9:g.107815994C>A	NCBI36
NG_011977.1:g.251185C>A
NG_011977.2:g.251185C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4294C>A MANE Select	ENSP00000331902.7:p.Pro1432Thr
ENST00000361603.7:c.4276C>A	ENSP00000354505.2:p.Pro1426Thr
ENST00000510690.2:n.788C>A
ENST00000328300.10:c.4294C>A	ENSP00000331902.6:p.Pro1432Thr
ENST00000361603.6:c.4276C>A	ENSP00000354505.2:p.Pro1426Thr
ENST00000489230.1:n.697C>A
ENST00000515658.1:c.90C>A
NM_000495.4:c.4276C>A	NP_000486.1:p.Pro1426Thr
NM_033380.2:c.4294C>A	NP_203699.1:p.Pro1432Thr
XM_005262070.2:c.4285C>A	XP_005262127.1:p.Pro1429Thr
XM_006724616.2:c.4294C>A	XP_006724679.1:p.Pro1432Thr
XM_011530849.1:c.3970C>A	XP_011529151.1:p.Pro1324Thr
XM_011530851.1:c.1867C>A	XP_011529153.1:p.Pro623Thr
XM_011530849.2:c.4309C>A	XP_011529151.2:p.Pro1437Thr
XM_017029259.2:c.4300C>A	XP_016884748.1:p.Pro1434Thr
XM_017029260.1:c.4291C>A	XP_016884749.1:p.Pro1431Thr
XM_017029263.2:c.2629C>A	XP_016884752.1:p.Pro877Thr
NM_000495.5:c.4276C>A	NP_000486.1:p.Pro1426Thr
NM_033380.3:c.4294C>A MANE Select	NP_203699.1:p.Pro1432Thr