Canonical Allele Identifier: CA414132460

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938077C>T (hg19) ; chrX:g.108694847C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694847C>T , CM000685.2:g.108694847C>T	GRCh38
NC_000023.10:g.107938077C>T , CM000685.1:g.107938077C>T	GRCh37
NC_000023.9:g.107824733C>T	NCBI36
NG_011977.1:g.259924C>T
NG_011977.2:g.259924C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4747C>T MANE Select	ENSP00000331902.7:p.His1583Tyr
ENST00000361603.7:c.4729C>T	ENSP00000354505.2:p.His1577Tyr
ENST00000510690.2:n.1241C>T
ENST00000644079.1:n.1233C>T
ENST00000328300.10:c.4747C>T	ENSP00000331902.6:p.His1583Tyr
ENST00000361603.6:c.4729C>T	ENSP00000354505.2:p.His1577Tyr
ENST00000504541.1:c.145C>T	ENSP00000424845.1:p.His49Tyr
ENST00000515658.1:c.325-1450C>T
NM_000495.4:c.4729C>T	NP_000486.1:p.His1577Tyr
NM_033380.2:c.4747C>T	NP_203699.1:p.His1583Tyr
XM_005262070.2:c.4738C>T	XP_005262127.1:p.His1580Tyr
XM_006724616.2:c.4747C>T	XP_006724679.1:p.His1583Tyr
XM_011530849.1:c.4423C>T	XP_011529151.1:p.His1475Tyr
XM_011530851.1:c.2320C>T	XP_011529153.1:p.His774Tyr
XM_011530849.2:c.4762C>T	XP_011529151.2:p.His1588Tyr
XM_017029259.2:c.4753C>T	XP_016884748.1:p.His1585Tyr
XM_017029260.1:c.4744C>T	XP_016884749.1:p.His1582Tyr
XM_017029263.2:c.3082C>T	XP_016884752.1:p.His1028Tyr
NM_000495.5:c.4729C>T	NP_000486.1:p.His1577Tyr
NM_033380.3:c.4747C>T MANE Select	NP_203699.1:p.His1583Tyr