Canonical Allele Identifier: CA2822895990

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696695A>G , CM000685.2:g.108696695A>G	GRCh38
NC_000023.10:g.107939925A>G , CM000685.1:g.107939925A>G	GRCh37
NC_000023.9:g.107826581A>G	NCBI36
NG_011977.1:g.261772A>G
NG_011977.2:g.261772A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.*317A>G MANE Select	ENSP00000331902.7:n.*317A>G
ENST00000361603.7:c.*317A>G	ENSP00000354505.2:n.*317A>G
ENST00000644079.1:n.3081A>G
ENST00000328300.10:c.*317A>G	ENSP00000331902.6:n.*317A>G
ENST00000361603.6:c.*317A>G	ENSP00000354505.2:n.*317A>G
ENST00000504541.1:c.618A>G	ENSP00000424845.1:n.618A>G
ENST00000515658.1:c.723A>G
NM_000495.4:c.*317A>G	NP_000486.1:n.*317A>G
NM_033380.2:c.*317A>G	NP_203699.1:n.*317A>G
XM_005262070.2:c.*317A>G	XP_005262127.1:n.*317A>G
XM_006724616.2:c.*317A>G	XP_006724679.1:n.*317A>G
XM_011530849.1:c.*317A>G	XP_011529151.1:n.*317A>G
XM_011530851.1:c.*317A>G	XP_011529153.1:n.*317A>G
XM_011530849.2:c.*317A>G	XP_011529151.2:n.*317A>G
XM_017029259.2:c.*317A>G	XP_016884748.1:n.*317A>G
XM_017029260.1:c.*317A>G	XP_016884749.1:n.*317A>G
XM_017029263.2:c.*317A>G	XP_016884752.1:n.*317A>G
NM_000495.5:c.*317A>G	NP_000486.1:n.*317A>G
NM_033380.3:c.*317A>G MANE Select	NP_203699.1:n.*317A>G