Canonical Allele Identifier: CA413919813

Gene: COL4A5

Linked Data

• gnomAD v4: X-108571426-T-A
• MyVariant Identifiers: chrX:g.107814656T>A (hg19) ; chrX:g.108571426T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108571426T>A , CM000685.2:g.108571426T>A	GRCh38
NC_000023.10:g.107814656T>A , CM000685.1:g.107814656T>A	GRCh37
NC_000023.9:g.107701312T>A	NCBI36
NG_011977.1:g.136503T>A
NG_011977.2:g.136503T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.398T>A MANE Select	ENSP00000331902.7:p.Phe133Tyr
ENST00000361603.7:c.398T>A	ENSP00000354505.2:p.Phe133Tyr
ENST00000328300.10:c.398T>A	ENSP00000331902.6:p.Phe133Tyr
ENST00000361603.6:c.398T>A	ENSP00000354505.2:p.Phe133Tyr
NM_000495.4:c.398T>A	NP_000486.1:p.Phe133Tyr
NM_033380.2:c.398T>A	NP_203699.1:p.Phe133Tyr
XM_005262070.2:c.398T>A	XP_005262127.1:p.Phe133Tyr
XM_005262072.3:c.398T>A	XP_005262129.1:p.Phe133Tyr
XM_006724616.2:c.398T>A	XP_006724679.1:p.Phe133Tyr
XM_011530849.1:c.74T>A	XP_011529151.1:p.Phe25Tyr
XM_011530850.1:c.398T>A	XP_011529152.1:p.Phe133Tyr
XM_011530849.2:c.413T>A	XP_011529151.2:p.Phe138Tyr
XM_017029259.2:c.413T>A	XP_016884748.1:p.Phe138Tyr
XM_017029260.1:c.413T>A	XP_016884749.1:p.Phe138Tyr
XM_017029261.1:c.413T>A	XP_016884750.1:p.Phe138Tyr
XM_017029262.2:c.413T>A	XP_016884751.1:p.Phe138Tyr
NM_000495.5:c.398T>A	NP_000486.1:p.Phe133Tyr
NM_033380.3:c.398T>A MANE Select	NP_203699.1:p.Phe133Tyr