Canonical Allele Identifier: CA413854087

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930763C>T (hg19) ; chrX:g.108687533C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687533C>T , CM000685.2:g.108687533C>T	GRCh38
NC_000023.10:g.107930763C>T , CM000685.1:g.107930763C>T	GRCh37
NC_000023.9:g.107817419C>T	NCBI36
NG_011977.1:g.252610C>T
NG_011977.2:g.252610C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4367C>T MANE Select	ENSP00000331902.7:p.Pro1456Leu
ENST00000361603.7:c.4349C>T	ENSP00000354505.2:p.Pro1450Leu
ENST00000510690.2:n.861C>T
ENST00000328300.10:c.4367C>T	ENSP00000331902.6:p.Pro1456Leu
ENST00000361603.6:c.4349C>T	ENSP00000354505.2:p.Pro1450Leu
ENST00000515658.1:c.163C>T
NM_000495.4:c.4349C>T	NP_000486.1:p.Pro1450Leu
NM_033380.2:c.4367C>T	NP_203699.1:p.Pro1456Leu
XM_005262070.2:c.4358C>T	XP_005262127.1:p.Pro1453Leu
XM_006724616.2:c.4367C>T	XP_006724679.1:p.Pro1456Leu
XM_011530849.1:c.4043C>T	XP_011529151.1:p.Pro1348Leu
XM_011530851.1:c.1940C>T	XP_011529153.1:p.Pro647Leu
XM_011530849.2:c.4382C>T	XP_011529151.2:p.Pro1461Leu
XM_017029259.2:c.4373C>T	XP_016884748.1:p.Pro1458Leu
XM_017029260.1:c.4364C>T	XP_016884749.1:p.Pro1455Leu
XM_017029263.2:c.2702C>T	XP_016884752.1:p.Pro901Leu
NM_000495.5:c.4349C>T	NP_000486.1:p.Pro1450Leu
NM_033380.3:c.4367C>T MANE Select	NP_203699.1:p.Pro1456Leu