Canonical Allele Identifier: CA414132464

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938078A>T (hg19) ; chrX:g.108694848A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694848A>T , CM000685.2:g.108694848A>T	GRCh38
NC_000023.10:g.107938078A>T , CM000685.1:g.107938078A>T	GRCh37
NC_000023.9:g.107824734A>T	NCBI36
NG_011977.1:g.259925A>T
NG_011977.2:g.259925A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4748A>T MANE Select	ENSP00000331902.7:p.His1583Leu
ENST00000361603.7:c.4730A>T	ENSP00000354505.2:p.His1577Leu
ENST00000510690.2:n.1242A>T
ENST00000644079.1:n.1234A>T
ENST00000328300.10:c.4748A>T	ENSP00000331902.6:p.His1583Leu
ENST00000361603.6:c.4730A>T	ENSP00000354505.2:p.His1577Leu
ENST00000504541.1:c.146A>T	ENSP00000424845.1:p.His49Leu
ENST00000515658.1:c.325-1449A>T
NM_000495.4:c.4730A>T	NP_000486.1:p.His1577Leu
NM_033380.2:c.4748A>T	NP_203699.1:p.His1583Leu
XM_005262070.2:c.4739A>T	XP_005262127.1:p.His1580Leu
XM_006724616.2:c.4748A>T	XP_006724679.1:p.His1583Leu
XM_011530849.1:c.4424A>T	XP_011529151.1:p.His1475Leu
XM_011530851.1:c.2321A>T	XP_011529153.1:p.His774Leu
XM_011530849.2:c.4763A>T	XP_011529151.2:p.His1588Leu
XM_017029259.2:c.4754A>T	XP_016884748.1:p.His1585Leu
XM_017029260.1:c.4745A>T	XP_016884749.1:p.His1582Leu
XM_017029263.2:c.3083A>T	XP_016884752.1:p.His1028Leu
NM_000495.5:c.4730A>T	NP_000486.1:p.His1577Leu
NM_033380.3:c.4748A>T MANE Select	NP_203699.1:p.His1583Leu