Canonical Allele Identifier: CA517923674

Gene: COL4A5

Linked Data

• dbSNP Id: rs766806328
• gnomAD v3: X-108680940-A-T
• gnomAD v4: X-108680940-A-T
• MyVariant Identifiers: chrX:g.107924170A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680940A>T , CM000685.2:g.108680940A>T	GRCh38
NC_000023.10:g.107924170A>T , CM000685.1:g.107924170A>T	GRCh37
NC_000023.9:g.107810826A>T	NCBI36
NG_011977.1:g.246017A>T
NG_011977.2:g.246017A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4071A>T MANE Select	ENSP00000331902.7:p.Gly1357=
ENST00000361603.7:c.4053A>T	ENSP00000354505.2:p.Gly1351=
ENST00000510690.2:n.565A>T
ENST00000328300.10:c.4071A>T	ENSP00000331902.6:p.Gly1357=
ENST00000361603.6:c.4053A>T	ENSP00000354505.2:p.Gly1351=
ENST00000489230.1:n.474A>T
NM_000495.4:c.4053A>T	NP_000486.1:p.Gly1351=
NM_033380.2:c.4071A>T	NP_203699.1:p.Gly1357=
XM_005262070.2:c.4062A>T	XP_005262127.1:p.Gly1354=
XM_006724616.2:c.4071A>T	XP_006724679.1:p.Gly1357=
XM_011530849.1:c.3747A>T	XP_011529151.1:p.Gly1249=
XM_011530851.1:c.1644A>T	XP_011529153.1:p.Gly548=
XM_011530849.2:c.4086A>T	XP_011529151.2:p.Gly1362=
XM_017029259.2:c.4077A>T	XP_016884748.1:p.Gly1359=
XM_017029260.1:c.4068A>T	XP_016884749.1:p.Gly1356=
XM_017029263.2:c.2406A>T	XP_016884752.1:p.Gly802=
NM_000495.5:c.4053A>T	NP_000486.1:p.Gly1351=
NM_033380.3:c.4071A>T MANE Select	NP_203699.1:p.Gly1357=