Canonical Allele Identifier: CA413851921

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107925004C>T (hg19) ; chrX:g.108681774C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681774C>T , CM000685.2:g.108681774C>T	GRCh38
NC_000023.10:g.107925004C>T , CM000685.1:g.107925004C>T	GRCh37
NC_000023.9:g.107811660C>T	NCBI36
NG_011977.1:g.246851C>T
NG_011977.2:g.246851C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4102C>T MANE Select	ENSP00000331902.7:p.Pro1368Ser
ENST00000361603.7:c.4084C>T	ENSP00000354505.2:p.Pro1362Ser
ENST00000510690.2:n.596C>T
ENST00000328300.10:c.4102C>T	ENSP00000331902.6:p.Pro1368Ser
ENST00000361603.6:c.4084C>T	ENSP00000354505.2:p.Pro1362Ser
ENST00000489230.1:n.505C>T
NM_000495.4:c.4084C>T	NP_000486.1:p.Pro1362Ser
NM_033380.2:c.4102C>T	NP_203699.1:p.Pro1368Ser
XM_005262070.2:c.4093C>T	XP_005262127.1:p.Pro1365Ser
XM_006724616.2:c.4102C>T	XP_006724679.1:p.Pro1368Ser
XM_011530849.1:c.3778C>T	XP_011529151.1:p.Pro1260Ser
XM_011530851.1:c.1675C>T	XP_011529153.1:p.Pro559Ser
XM_011530849.2:c.4117C>T	XP_011529151.2:p.Pro1373Ser
XM_017029259.2:c.4108C>T	XP_016884748.1:p.Pro1370Ser
XM_017029260.1:c.4099C>T	XP_016884749.1:p.Pro1367Ser
XM_017029263.2:c.2437C>T	XP_016884752.1:p.Pro813Ser
NM_000495.5:c.4084C>T	NP_000486.1:p.Pro1362Ser
NM_033380.3:c.4102C>T MANE Select	NP_203699.1:p.Pro1368Ser