Canonical Allele Identifier: CA413849255

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108670228G>T , CM000685.2:g.108670228G>T	GRCh38
NC_000023.10:g.107913458G>T , CM000685.1:g.107913458G>T	GRCh37
NC_000023.9:g.107800114G>T	NCBI36
NG_011977.1:g.235305G>T
NG_011977.2:g.235305G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033380.3:c.3791G>T MANE Select	NP_203699.1:p.Gly1264Val
ENST00000328300.11:c.3791G>T MANE Select	ENSP00000331902.7:p.Gly1264Val
NM_000495.4:c.3790+1724G>T	NP_000486.1:n.3790+1724G>T
NM_000495.5:c.3790+1724G>T	NP_000486.1:n.3790+1724G>T
NM_033380.2:c.3791G>T	NP_203699.1:p.Gly1264Val
ENST00000328300.10:c.3791G>T	ENSP00000331902.6:p.Gly1264Val
ENST00000361603.6:c.3790+1724G>T	ENSP00000354505.2:n.3790+1724G>T
ENST00000361603.7:c.3790+1724G>T	ENSP00000354505.2:n.3790+1724G>T
ENST00000489230.1:n.194G>T
XM_005262070.2:c.3790+1724G>T	XP_005262127.1:n.3790+1724G>T
XM_006724616.2:c.3791G>T	XP_006724679.1:p.Gly1264Val
XM_011530849.1:c.3467G>T	XP_011529151.1:p.Gly1156Val
XM_011530849.2:c.3806G>T	XP_011529151.2:p.Gly1269Val
XM_011530850.1:c.3791-453G>T	XP_011529152.1:n.3791-453G>T
XM_011530851.1:c.1364G>T	XP_011529153.1:p.Gly455Val
XM_017029259.2:c.3805+1724G>T	XP_016884748.1:n.3805+1724G>T
XM_017029260.1:c.3805+1724G>T	XP_016884749.1:n.3805+1724G>T
XM_017029261.1:c.3806G>T	XP_016884750.1:p.Gly1269Val
XM_017029262.2:c.3806-453G>T	XP_016884751.1:n.3806-453G>T
XM_017029263.2:c.2126G>T	XP_016884752.1:p.Gly709Val