Canonical Allele Identifier: CA414133145

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696353G>A , CM000685.2:g.108696353G>A	GRCh38
NC_000023.10:g.107939583G>A , CM000685.1:g.107939583G>A	GRCh37
NC_000023.9:g.107826239G>A	NCBI36
NG_011977.1:g.261430G>A
NG_011977.2:g.261430G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033380.3:c.5051G>A MANE Select	NP_203699.1:p.Cys1684Tyr
ENST00000328300.11:c.5051G>A MANE Select	ENSP00000331902.7:p.Cys1684Tyr
NM_000495.4:c.5033G>A	NP_000486.1:p.Cys1678Tyr
NM_000495.5:c.5033G>A	NP_000486.1:p.Cys1678Tyr
NM_033380.2:c.5051G>A	NP_203699.1:p.Cys1684Tyr
ENST00000328300.10:c.5051G>A	ENSP00000331902.6:p.Cys1684Tyr
ENST00000361603.6:c.5033G>A	ENSP00000354505.2:p.Cys1678Tyr
ENST00000361603.7:c.5033G>A	ENSP00000354505.2:p.Cys1678Tyr
ENST00000504541.1:c.276G>A	ENSP00000424845.1:n.276G>A
ENST00000510690.2:n.1545G>A
ENST00000515658.1:c.381G>A
ENST00000644079.1:n.2739G>A
XM_005262070.2:c.5042G>A	XP_005262127.1:p.Cys1681Tyr
XM_006724616.2:c.5051G>A	XP_006724679.1:p.Cys1684Tyr
XM_011530849.1:c.4727G>A	XP_011529151.1:p.Cys1576Tyr
XM_011530849.2:c.5066G>A	XP_011529151.2:p.Cys1689Tyr
XM_011530851.1:c.2624G>A	XP_011529153.1:p.Cys875Tyr
XM_017029259.2:c.5057G>A	XP_016884748.1:p.Cys1686Tyr
XM_017029260.1:c.5048G>A	XP_016884749.1:p.Cys1683Tyr
XM_017029263.2:c.3386G>A	XP_016884752.1:p.Cys1129Tyr