Canonical Allele Identifier: CA413855722

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108692889C>T , CM000685.2:g.108692889C>T	GRCh38
NC_000023.10:g.107936119C>T , CM000685.1:g.107936119C>T	GRCh37
NC_000023.9:g.107822775C>T	NCBI36
NG_011977.1:g.257966C>T
NG_011977.2:g.257966C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033380.3:c.4670C>T MANE Select	NP_203699.1:p.Pro1557Leu
ENST00000328300.11:c.4670C>T MANE Select	ENSP00000331902.7:p.Pro1557Leu
NM_000495.4:c.4652C>T	NP_000486.1:p.Pro1551Leu
NM_000495.5:c.4652C>T	NP_000486.1:p.Pro1551Leu
NM_033380.2:c.4670C>T	NP_203699.1:p.Pro1557Leu
ENST00000328300.10:c.4670C>T	ENSP00000331902.6:p.Pro1557Leu
ENST00000361603.6:c.4652C>T	ENSP00000354505.2:p.Pro1551Leu
ENST00000361603.7:c.4652C>T	ENSP00000354505.2:p.Pro1551Leu
ENST00000504541.1:c.68C>T	ENSP00000424845.1:p.Pro23Leu
ENST00000510690.2:n.1164C>T
ENST00000515658.1:c.325-3408C>T
XM_005262070.2:c.4661C>T	XP_005262127.1:p.Pro1554Leu
XM_006724616.2:c.4670C>T	XP_006724679.1:p.Pro1557Leu
XM_011530849.1:c.4346C>T	XP_011529151.1:p.Pro1449Leu
XM_011530849.2:c.4685C>T	XP_011529151.2:p.Pro1562Leu
XM_011530851.1:c.2243C>T	XP_011529153.1:p.Pro748Leu
XM_017029259.2:c.4676C>T	XP_016884748.1:p.Pro1559Leu
XM_017029260.1:c.4667C>T	XP_016884749.1:p.Pro1556Leu
XM_017029263.2:c.3005C>T	XP_016884752.1:p.Pro1002Leu