Canonical Allele Identifier: CA413847123

Gene: COL4A5

Linked Data

• gnomAD v4: X-108665510-C-A
• MyVariant Identifiers: chrX:g.107908740C>A (hg19) ; chrX:g.108665510C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108665510C>A , CM000685.2:g.108665510C>A	GRCh38
NC_000023.10:g.107908740C>A , CM000685.1:g.107908740C>A	GRCh37
NC_000023.9:g.107795396C>A	NCBI36
NG_011977.1:g.230587C>A
NG_011977.2:g.230587C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3377C>A MANE Select	ENSP00000331902.7:p.Thr1126Asn
ENST00000361603.7:c.3377C>A	ENSP00000354505.2:p.Thr1126Asn
ENST00000328300.10:c.3377C>A	ENSP00000331902.6:p.Thr1126Asn
ENST00000361603.6:c.3377C>A	ENSP00000354505.2:p.Thr1126Asn
NM_000495.4:c.3377C>A	NP_000486.1:p.Thr1126Asn
NM_033380.2:c.3377C>A	NP_203699.1:p.Thr1126Asn
XM_005262070.2:c.3377C>A	XP_005262127.1:p.Thr1126Asn
XM_006724616.2:c.3377C>A	XP_006724679.1:p.Thr1126Asn
XM_011530849.1:c.3053C>A	XP_011529151.1:p.Thr1018Asn
XM_011530850.1:c.3377C>A	XP_011529152.1:p.Thr1126Asn
XM_011530851.1:c.950C>A	XP_011529153.1:p.Thr317Asn
XM_011530849.2:c.3392C>A	XP_011529151.2:p.Thr1131Asn
XM_017029259.2:c.3392C>A	XP_016884748.1:p.Thr1131Asn
XM_017029260.1:c.3392C>A	XP_016884749.1:p.Thr1131Asn
XM_017029261.1:c.3392C>A	XP_016884750.1:p.Thr1131Asn
XM_017029262.2:c.3392C>A	XP_016884751.1:p.Thr1131Asn
XM_017029263.2:c.1712C>A	XP_016884752.1:p.Thr571Asn
NM_000495.5:c.3377C>A	NP_000486.1:p.Thr1126Asn
NM_033380.3:c.3377C>A MANE Select	NP_203699.1:p.Thr1126Asn