Canonical Allele Identifier: CA2579677335

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695525C>A , CM000685.2:g.108695525C>A	GRCh38
NC_000023.10:g.107938755C>A , CM000685.1:g.107938755C>A	GRCh37
NC_000023.9:g.107825411C>A	NCBI36
NG_011977.1:g.260602C>A
NG_011977.2:g.260602C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4994+86C>A MANE Select	ENSP00000331902.7:n.4994+86C>A
ENST00000361603.7:c.4976+86C>A	ENSP00000354505.2:n.4976+86C>A
ENST00000510690.2:n.1488+86C>A
ENST00000644079.1:n.1911C>A
ENST00000328300.10:c.4994+86C>A	ENSP00000331902.6:n.4994+86C>A
ENST00000361603.6:c.4976+86C>A	ENSP00000354505.2:n.4976+86C>A
ENST00000504541.1:c.219+604C>A	ENSP00000424845.1:n.219+604C>A
ENST00000515658.1:c.325-772C>A
NM_000495.4:c.4976+86C>A	NP_000486.1:n.4976+86C>A
NM_033380.2:c.4994+86C>A	NP_203699.1:n.4994+86C>A
XM_005262070.2:c.4985+86C>A	XP_005262127.1:n.4985+86C>A
XM_006724616.2:c.4994+86C>A	XP_006724679.1:n.4994+86C>A
XM_011530849.1:c.4670+86C>A	XP_011529151.1:n.4670+86C>A
XM_011530851.1:c.2567+86C>A	XP_011529153.1:n.2567+86C>A
XM_011530849.2:c.5009+86C>A	XP_011529151.2:n.5009+86C>A
XM_017029259.2:c.5000+86C>A	XP_016884748.1:n.5000+86C>A
XM_017029260.1:c.4991+86C>A	XP_016884749.1:n.4991+86C>A
XM_017029263.2:c.3329+86C>A	XP_016884752.1:n.3329+86C>A
NM_000495.5:c.4976+86C>A	NP_000486.1:n.4976+86C>A
NM_033380.3:c.4994+86C>A MANE Select	NP_203699.1:n.4994+86C>A