Canonical Allele Identifier: CA413851127

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107924132G>T (hg19) ; chrX:g.108680902G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680902G>T , CM000685.2:g.108680902G>T	GRCh38
NC_000023.10:g.107924132G>T , CM000685.1:g.107924132G>T	GRCh37
NC_000023.9:g.107810788G>T	NCBI36
NG_011977.1:g.245979G>T
NG_011977.2:g.245979G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4033G>T MANE Select	ENSP00000331902.7:p.Gly1345Ter
ENST00000361603.7:c.4015G>T	ENSP00000354505.2:p.Gly1339Ter
ENST00000510690.2:n.527G>T
ENST00000328300.10:c.4033G>T	ENSP00000331902.6:p.Gly1345Ter
ENST00000361603.6:c.4015G>T	ENSP00000354505.2:p.Gly1339Ter
ENST00000489230.1:n.436G>T
NM_000495.4:c.4015G>T	NP_000486.1:p.Gly1339Ter
NM_033380.2:c.4033G>T	NP_203699.1:p.Gly1345Ter
XM_005262070.2:c.4024G>T	XP_005262127.1:p.Gly1342Ter
XM_006724616.2:c.4033G>T	XP_006724679.1:p.Gly1345Ter
XM_011530849.1:c.3709G>T	XP_011529151.1:p.Gly1237Ter
XM_011530851.1:c.1606G>T	XP_011529153.1:p.Gly536Ter
XM_011530849.2:c.4048G>T	XP_011529151.2:p.Gly1350Ter
XM_017029259.2:c.4039G>T	XP_016884748.1:p.Gly1347Ter
XM_017029260.1:c.4030G>T	XP_016884749.1:p.Gly1344Ter
XM_017029263.2:c.2368G>T	XP_016884752.1:p.Gly790Ter
NM_000495.5:c.4015G>T	NP_000486.1:p.Gly1339Ter
NM_033380.3:c.4033G>T MANE Select	NP_203699.1:p.Gly1345Ter