Canonical Allele Identifier: CA517923298

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107920761C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108677531C>A , CM000685.2:g.108677531C>A	GRCh38
NC_000023.10:g.107920761C>A , CM000685.1:g.107920761C>A	GRCh37
NC_000023.9:g.107807417C>A	NCBI36
NG_011977.1:g.242608C>A
NG_011977.2:g.242608C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3840C>A MANE Select	ENSP00000331902.7:p.Leu1280=
ENST00000361603.7:c.3822C>A	ENSP00000354505.2:p.Leu1274=
ENST00000510690.2:n.334C>A
ENST00000328300.10:c.3840C>A	ENSP00000331902.6:p.Leu1280=
ENST00000361603.6:c.3822C>A	ENSP00000354505.2:p.Leu1274=
ENST00000489230.1:n.243C>A
ENST00000510690.1:n.334C>A
NM_000495.4:c.3822C>A	NP_000486.1:p.Leu1274=
NM_033380.2:c.3840C>A	NP_203699.1:p.Leu1280=
XM_005262070.2:c.3831C>A	XP_005262127.1:p.Leu1277=
XM_006724616.2:c.3840C>A	XP_006724679.1:p.Leu1280=
XM_011530849.1:c.3516C>A	XP_011529151.1:p.Leu1172=
XM_011530851.1:c.1413C>A	XP_011529153.1:p.Leu471=
XM_011530849.2:c.3855C>A	XP_011529151.2:p.Leu1285=
XM_017029259.2:c.3846C>A	XP_016884748.1:p.Leu1282=
XM_017029260.1:c.3837C>A	XP_016884749.1:p.Leu1279=
XM_017029261.1:c.3855C>A	XP_016884750.1:p.Leu1285=
XM_017029263.2:c.2175C>A	XP_016884752.1:p.Leu725=
NM_000495.5:c.3822C>A	NP_000486.1:p.Leu1274=
NM_033380.3:c.3840C>A MANE Select	NP_203699.1:p.Leu1280=