Canonical Allele Identifier: CA10489325

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1123133
• ClinVar RCV Id: RCV001454042
• dbSNP Id: rs755903473
• ExAC: X:107929283 T / A
• gnomAD v2: X-107929283-T-A
• gnomAD v3: X-108686053-T-A
• gnomAD v4: X-108686053-T-A
• MyVariant Identifiers: chrX:g.107929283T>A (hg19) ; chrX:g.108686053T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686053T>A , CM000685.2:g.108686053T>A	GRCh38
NC_000023.10:g.107929283T>A , CM000685.1:g.107929283T>A	GRCh37
NC_000023.9:g.107815939T>A	NCBI36
NG_011977.1:g.251130T>A
NG_011977.2:g.251130T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4239T>A MANE Select	ENSP00000331902.7:p.Asp1413Glu
ENST00000361603.7:c.4221T>A	ENSP00000354505.2:p.Asp1407Glu
ENST00000510690.2:n.733T>A
ENST00000328300.10:c.4239T>A	ENSP00000331902.6:p.Asp1413Glu
ENST00000361603.6:c.4221T>A	ENSP00000354505.2:p.Asp1407Glu
ENST00000489230.1:n.642T>A
ENST00000515658.1:c.35T>A
NM_000495.4:c.4221T>A	NP_000486.1:p.Asp1407Glu
NM_033380.2:c.4239T>A	NP_203699.1:p.Asp1413Glu
XM_005262070.2:c.4230T>A	XP_005262127.1:p.Asp1410Glu
XM_006724616.2:c.4239T>A	XP_006724679.1:p.Asp1413Glu
XM_011530849.1:c.3915T>A	XP_011529151.1:p.Asp1305Glu
XM_011530851.1:c.1812T>A	XP_011529153.1:p.Asp604Glu
XM_011530849.2:c.4254T>A	XP_011529151.2:p.Asp1418Glu
XM_017029259.2:c.4245T>A	XP_016884748.1:p.Asp1415Glu
XM_017029260.1:c.4236T>A	XP_016884749.1:p.Asp1412Glu
XM_017029263.2:c.2574T>A	XP_016884752.1:p.Asp858Glu
NM_000495.5:c.4221T>A	NP_000486.1:p.Asp1407Glu
NM_033380.3:c.4239T>A MANE Select	NP_203699.1:p.Asp1413Glu