Canonical Allele Identifier: CA413845102

Gene: COL4A5

Linked Data

• gnomAD v4: X-108597027-G-T
• MyVariant Identifiers: chrX:g.107840257G>T (hg19) ; chrX:g.108597027G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108597027G>T , CM000685.2:g.108597027G>T	GRCh38
NC_000023.10:g.107840257G>T , CM000685.1:g.107840257G>T	GRCh37
NC_000023.9:g.107726913G>T	NCBI36
NG_011977.1:g.162104G>T
NG_011977.2:g.162104G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.1546G>T MANE Select	ENSP00000331902.7:p.Glu516Ter
ENST00000361603.7:c.1546G>T	ENSP00000354505.2:p.Glu516Ter
ENST00000328300.10:c.1546G>T	ENSP00000331902.6:p.Glu516Ter
ENST00000361603.6:c.1546G>T	ENSP00000354505.2:p.Glu516Ter
ENST00000483338.1:n.1002G>T
NM_000495.4:c.1546G>T	NP_000486.1:p.Glu516Ter
NM_033380.2:c.1546G>T	NP_203699.1:p.Glu516Ter
XM_005262070.2:c.1546G>T	XP_005262127.1:p.Glu516Ter
XM_005262072.3:c.1546G>T	XP_005262129.1:p.Glu516Ter
XM_006724616.2:c.1546G>T	XP_006724679.1:p.Glu516Ter
XM_011530849.1:c.1222G>T	XP_011529151.1:p.Glu408Ter
XM_011530850.1:c.1546G>T	XP_011529152.1:p.Glu516Ter
XM_011530849.2:c.1561G>T	XP_011529151.2:p.Glu521Ter
XM_017029259.2:c.1561G>T	XP_016884748.1:p.Glu521Ter
XM_017029260.1:c.1561G>T	XP_016884749.1:p.Glu521Ter
XM_017029261.1:c.1561G>T	XP_016884750.1:p.Glu521Ter
XM_017029262.2:c.1561G>T	XP_016884751.1:p.Glu521Ter
XM_017029263.2:c.-120G>T	XP_016884752.1:n.-120G>T
NM_000495.5:c.1546G>T	NP_000486.1:p.Glu516Ter
NM_033380.3:c.1546G>T MANE Select	NP_203699.1:p.Glu516Ter