Canonical Allele Identifier: CA413850124

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107920742C>T (hg19) ; chrX:g.108677512C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108677512C>T , CM000685.2:g.108677512C>T	GRCh38
NC_000023.10:g.107920742C>T , CM000685.1:g.107920742C>T	GRCh37
NC_000023.9:g.107807398C>T	NCBI36
NG_011977.1:g.242589C>T
NG_011977.2:g.242589C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3821C>T MANE Select	ENSP00000331902.7:p.Pro1274Leu
ENST00000361603.7:c.3803C>T	ENSP00000354505.2:p.Pro1268Leu
ENST00000510690.2:n.315C>T
ENST00000328300.10:c.3821C>T	ENSP00000331902.6:p.Pro1274Leu
ENST00000361603.6:c.3803C>T	ENSP00000354505.2:p.Pro1268Leu
ENST00000489230.1:n.224C>T
ENST00000510690.1:n.315C>T
NM_000495.4:c.3803C>T	NP_000486.1:p.Pro1268Leu
NM_033380.2:c.3821C>T	NP_203699.1:p.Pro1274Leu
XM_005262070.2:c.3812C>T	XP_005262127.1:p.Pro1271Leu
XM_006724616.2:c.3821C>T	XP_006724679.1:p.Pro1274Leu
XM_011530849.1:c.3497C>T	XP_011529151.1:p.Pro1166Leu
XM_011530851.1:c.1394C>T	XP_011529153.1:p.Pro465Leu
XM_011530849.2:c.3836C>T	XP_011529151.2:p.Pro1279Leu
XM_017029259.2:c.3827C>T	XP_016884748.1:p.Pro1276Leu
XM_017029260.1:c.3818C>T	XP_016884749.1:p.Pro1273Leu
XM_017029261.1:c.3836C>T	XP_016884750.1:p.Pro1279Leu
XM_017029263.2:c.2156C>T	XP_016884752.1:p.Pro719Leu
NM_000495.5:c.3803C>T	NP_000486.1:p.Pro1268Leu
NM_033380.3:c.3821C>T MANE Select	NP_203699.1:p.Pro1274Leu