Canonical Allele Identifier: CA413847052

Gene: COL4A5

Linked Data

• gnomAD v4: X-108601962-G-T
• MyVariant Identifiers: chrX:g.107845192G>T (hg19) ; chrX:g.108601962G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108601962G>T , CM000685.2:g.108601962G>T	GRCh38
NC_000023.10:g.107845192G>T , CM000685.1:g.107845192G>T	GRCh37
NC_000023.9:g.107731848G>T	NCBI36
NG_011977.1:g.167039G>T
NG_011977.2:g.167039G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2119G>T MANE Select	ENSP00000331902.7:p.Gly707Trp
ENST00000361603.7:c.2119G>T	ENSP00000354505.2:p.Gly707Trp
ENST00000328300.10:c.2119G>T	ENSP00000331902.6:p.Gly707Trp
ENST00000361603.6:c.2119G>T	ENSP00000354505.2:p.Gly707Trp
ENST00000483338.1:n.1575G>T
NM_000495.4:c.2119G>T	NP_000486.1:p.Gly707Trp
NM_033380.2:c.2119G>T	NP_203699.1:p.Gly707Trp
XM_005262070.2:c.2119G>T	XP_005262127.1:p.Gly707Trp
XM_005262072.3:c.2119G>T	XP_005262129.1:p.Gly707Trp
XM_006724616.2:c.2119G>T	XP_006724679.1:p.Gly707Trp
XM_011530849.1:c.1795G>T	XP_011529151.1:p.Gly599Trp
XM_011530850.1:c.2119G>T	XP_011529152.1:p.Gly707Trp
XM_011530849.2:c.2134G>T	XP_011529151.2:p.Gly712Trp
XM_017029259.2:c.2134G>T	XP_016884748.1:p.Gly712Trp
XM_017029260.1:c.2134G>T	XP_016884749.1:p.Gly712Trp
XM_017029261.1:c.2134G>T	XP_016884750.1:p.Gly712Trp
XM_017029262.2:c.2134G>T	XP_016884751.1:p.Gly712Trp
XM_017029263.2:c.454G>T	XP_016884752.1:p.Gly152Trp
NM_000495.5:c.2119G>T	NP_000486.1:p.Gly707Trp
NM_033380.3:c.2119G>T MANE Select	NP_203699.1:p.Gly707Trp