Canonical Allele Identifier: CA2822902295

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681707C>T , CM000685.2:g.108681707C>T	GRCh38
NC_000023.10:g.107924937C>T , CM000685.1:g.107924937C>T	GRCh37
NC_000023.9:g.107811593C>T	NCBI36
NG_011977.1:g.246784C>T
NG_011977.2:g.246784C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4088-53C>T MANE Select	ENSP00000331902.7:n.4088-53C>T
ENST00000361603.7:c.4070-53C>T	ENSP00000354505.2:n.4070-53C>T
ENST00000510690.2:n.582-53C>T
ENST00000328300.10:c.4088-53C>T	ENSP00000331902.6:n.4088-53C>T
ENST00000361603.6:c.4070-53C>T	ENSP00000354505.2:n.4070-53C>T
ENST00000489230.1:n.491-53C>T
NM_000495.4:c.4070-53C>T	NP_000486.1:n.4070-53C>T
NM_033380.2:c.4088-53C>T	NP_203699.1:n.4088-53C>T
XM_005262070.2:c.4079-53C>T	XP_005262127.1:n.4079-53C>T
XM_006724616.2:c.4088-53C>T	XP_006724679.1:n.4088-53C>T
XM_011530849.1:c.3764-53C>T	XP_011529151.1:n.3764-53C>T
XM_011530851.1:c.1661-53C>T	XP_011529153.1:n.1661-53C>T
XM_011530849.2:c.4103-53C>T	XP_011529151.2:n.4103-53C>T
XM_017029259.2:c.4094-53C>T	XP_016884748.1:n.4094-53C>T
XM_017029260.1:c.4085-53C>T	XP_016884749.1:n.4085-53C>T
XM_017029263.2:c.2423-53C>T	XP_016884752.1:n.2423-53C>T
NM_000495.5:c.4070-53C>T	NP_000486.1:n.4070-53C>T
NM_033380.3:c.4088-53C>T MANE Select	NP_203699.1:n.4088-53C>T