Canonical Allele Identifier: CA517923675

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107924173T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680943T>A , CM000685.2:g.108680943T>A	GRCh38
NC_000023.10:g.107924173T>A , CM000685.1:g.107924173T>A	GRCh37
NC_000023.9:g.107810829T>A	NCBI36
NG_011977.1:g.246020T>A
NG_011977.2:g.246020T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4074T>A MANE Select	ENSP00000331902.7:p.Leu1358=
ENST00000361603.7:c.4056T>A	ENSP00000354505.2:p.Leu1352=
ENST00000510690.2:n.568T>A
ENST00000328300.10:c.4074T>A	ENSP00000331902.6:p.Leu1358=
ENST00000361603.6:c.4056T>A	ENSP00000354505.2:p.Leu1352=
ENST00000489230.1:n.477T>A
NM_000495.4:c.4056T>A	NP_000486.1:p.Leu1352=
NM_033380.2:c.4074T>A	NP_203699.1:p.Leu1358=
XM_005262070.2:c.4065T>A	XP_005262127.1:p.Leu1355=
XM_006724616.2:c.4074T>A	XP_006724679.1:p.Leu1358=
XM_011530849.1:c.3750T>A	XP_011529151.1:p.Leu1250=
XM_011530851.1:c.1647T>A	XP_011529153.1:p.Leu549=
XM_011530849.2:c.4089T>A	XP_011529151.2:p.Leu1363=
XM_017029259.2:c.4080T>A	XP_016884748.1:p.Leu1360=
XM_017029260.1:c.4071T>A	XP_016884749.1:p.Leu1357=
XM_017029263.2:c.2409T>A	XP_016884752.1:p.Leu803=
NM_000495.5:c.4056T>A	NP_000486.1:p.Leu1352=
NM_033380.3:c.4074T>A MANE Select	NP_203699.1:p.Leu1358=