Canonical Allele Identifier: CA517926141

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938625C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695395C>A , CM000685.2:g.108695395C>A	GRCh38
NC_000023.10:g.107938625C>A , CM000685.1:g.107938625C>A	GRCh37
NC_000023.9:g.107825281C>A	NCBI36
NG_011977.1:g.260472C>A
NG_011977.2:g.260472C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4950C>A MANE Select	ENSP00000331902.7:p.Ser1650=
ENST00000361603.7:c.4932C>A	ENSP00000354505.2:p.Ser1644=
ENST00000510690.2:n.1444C>A
ENST00000644079.1:n.1781C>A
ENST00000328300.10:c.4950C>A	ENSP00000331902.6:p.Ser1650=
ENST00000361603.6:c.4932C>A	ENSP00000354505.2:p.Ser1644=
ENST00000504541.1:c.219+474C>A	ENSP00000424845.1:n.219+474C>A
ENST00000515658.1:c.325-902C>A
NM_000495.4:c.4932C>A	NP_000486.1:p.Ser1644=
NM_033380.2:c.4950C>A	NP_203699.1:p.Ser1650=
XM_005262070.2:c.4941C>A	XP_005262127.1:p.Ser1647=
XM_006724616.2:c.4950C>A	XP_006724679.1:p.Ser1650=
XM_011530849.1:c.4626C>A	XP_011529151.1:p.Ser1542=
XM_011530851.1:c.2523C>A	XP_011529153.1:p.Ser841=
XM_011530849.2:c.4965C>A	XP_011529151.2:p.Ser1655=
XM_017029259.2:c.4956C>A	XP_016884748.1:p.Ser1652=
XM_017029260.1:c.4947C>A	XP_016884749.1:p.Ser1649=
XM_017029263.2:c.3285C>A	XP_016884752.1:p.Ser1095=
NM_000495.5:c.4932C>A	NP_000486.1:p.Ser1644=
NM_033380.3:c.4950C>A MANE Select	NP_203699.1:p.Ser1650=