Canonical Allele Identifier: CA414132406

Gene: COL4A5

Linked Data

• gnomAD v4: X-108694818-G-A
• MyVariant Identifiers: chrX:g.107938048G>A (hg19) ; chrX:g.108694818G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694818G>A , CM000685.2:g.108694818G>A	GRCh38
NC_000023.10:g.107938048G>A , CM000685.1:g.107938048G>A	GRCh37
NC_000023.9:g.107824704G>A	NCBI36
NG_011977.1:g.259895G>A
NG_011977.2:g.259895G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4718G>A MANE Select	ENSP00000331902.7:p.Cys1573Tyr
ENST00000361603.7:c.4700G>A	ENSP00000354505.2:p.Cys1567Tyr
ENST00000510690.2:n.1212G>A
ENST00000644079.1:n.1204G>A
ENST00000328300.10:c.4718G>A	ENSP00000331902.6:p.Cys1573Tyr
ENST00000361603.6:c.4700G>A	ENSP00000354505.2:p.Cys1567Tyr
ENST00000504541.1:c.116G>A	ENSP00000424845.1:p.Cys39Tyr
ENST00000515658.1:c.325-1479G>A
NM_000495.4:c.4700G>A	NP_000486.1:p.Cys1567Tyr
NM_033380.2:c.4718G>A	NP_203699.1:p.Cys1573Tyr
XM_005262070.2:c.4709G>A	XP_005262127.1:p.Cys1570Tyr
XM_006724616.2:c.4718G>A	XP_006724679.1:p.Cys1573Tyr
XM_011530849.1:c.4394G>A	XP_011529151.1:p.Cys1465Tyr
XM_011530851.1:c.2291G>A	XP_011529153.1:p.Cys764Tyr
XM_011530849.2:c.4733G>A	XP_011529151.2:p.Cys1578Tyr
XM_017029259.2:c.4724G>A	XP_016884748.1:p.Cys1575Tyr
XM_017029260.1:c.4715G>A	XP_016884749.1:p.Cys1572Tyr
XM_017029263.2:c.3053G>A	XP_016884752.1:p.Cys1018Tyr
NM_000495.5:c.4700G>A	NP_000486.1:p.Cys1567Tyr
NM_033380.3:c.4718G>A MANE Select	NP_203699.1:p.Cys1573Tyr