Canonical Allele Identifier: CA414133060

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107939540G>T (hg19) ; chrX:g.108696310G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696310G>T , CM000685.2:g.108696310G>T	GRCh38
NC_000023.10:g.107939540G>T , CM000685.1:g.107939540G>T	GRCh37
NC_000023.9:g.107826196G>T	NCBI36
NG_011977.1:g.261387G>T
NG_011977.2:g.261387G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.5008G>T MANE Select	ENSP00000331902.7:p.Glu1670Ter
ENST00000361603.7:c.4990G>T	ENSP00000354505.2:p.Glu1664Ter
ENST00000510690.2:n.1502G>T
ENST00000644079.1:n.2696G>T
ENST00000328300.10:c.5008G>T	ENSP00000331902.6:p.Glu1670Ter
ENST00000361603.6:c.4990G>T	ENSP00000354505.2:p.Glu1664Ter
ENST00000504541.1:c.233G>T	ENSP00000424845.1:n.233G>T
ENST00000515658.1:c.338G>T
NM_000495.4:c.4990G>T	NP_000486.1:p.Glu1664Ter
NM_033380.2:c.5008G>T	NP_203699.1:p.Glu1670Ter
XM_005262070.2:c.4999G>T	XP_005262127.1:p.Glu1667Ter
XM_006724616.2:c.5008G>T	XP_006724679.1:p.Glu1670Ter
XM_011530849.1:c.4684G>T	XP_011529151.1:p.Glu1562Ter
XM_011530851.1:c.2581G>T	XP_011529153.1:p.Glu861Ter
XM_011530849.2:c.5023G>T	XP_011529151.2:p.Glu1675Ter
XM_017029259.2:c.5014G>T	XP_016884748.1:p.Glu1672Ter
XM_017029260.1:c.5005G>T	XP_016884749.1:p.Glu1669Ter
XM_017029263.2:c.3343G>T	XP_016884752.1:p.Glu1115Ter
NM_000495.5:c.4990G>T	NP_000486.1:p.Glu1664Ter
NM_033380.3:c.5008G>T MANE Select	NP_203699.1:p.Glu1670Ter