Canonical Allele Identifier: CA414132641

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938497C>T (hg19) ; chrX:g.108695267C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695267C>T , CM000685.2:g.108695267C>T	GRCh38
NC_000023.10:g.107938497C>T , CM000685.1:g.107938497C>T	GRCh37
NC_000023.9:g.107825153C>T	NCBI36
NG_011977.1:g.260344C>T
NG_011977.2:g.260344C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4822C>T MANE Select	ENSP00000331902.7:p.His1608Tyr
ENST00000361603.7:c.4804C>T	ENSP00000354505.2:p.His1602Tyr
ENST00000510690.2:n.1316C>T
ENST00000644079.1:n.1653C>T
ENST00000328300.10:c.4822C>T	ENSP00000331902.6:p.His1608Tyr
ENST00000361603.6:c.4804C>T	ENSP00000354505.2:p.His1602Tyr
ENST00000504541.1:c.219+346C>T	ENSP00000424845.1:n.219+346C>T
ENST00000515658.1:c.325-1030C>T
NM_000495.4:c.4804C>T	NP_000486.1:p.His1602Tyr
NM_033380.2:c.4822C>T	NP_203699.1:p.His1608Tyr
XM_005262070.2:c.4813C>T	XP_005262127.1:p.His1605Tyr
XM_006724616.2:c.4822C>T	XP_006724679.1:p.His1608Tyr
XM_011530849.1:c.4498C>T	XP_011529151.1:p.His1500Tyr
XM_011530851.1:c.2395C>T	XP_011529153.1:p.His799Tyr
XM_011530849.2:c.4837C>T	XP_011529151.2:p.His1613Tyr
XM_017029259.2:c.4828C>T	XP_016884748.1:p.His1610Tyr
XM_017029260.1:c.4819C>T	XP_016884749.1:p.His1607Tyr
XM_017029263.2:c.3157C>T	XP_016884752.1:p.His1053Tyr
NM_000495.5:c.4804C>T	NP_000486.1:p.His1602Tyr
NM_033380.3:c.4822C>T MANE Select	NP_203699.1:p.His1608Tyr