Canonical Allele Identifier: CA517925898

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938124T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694894T>A , CM000685.2:g.108694894T>A	GRCh38
NC_000023.10:g.107938124T>A , CM000685.1:g.107938124T>A	GRCh37
NC_000023.9:g.107824780T>A	NCBI36
NG_011977.1:g.259971T>A
NG_011977.2:g.259971T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4794T>A MANE Select	ENSP00000331902.7:p.Ser1598=
ENST00000361603.7:c.4776T>A	ENSP00000354505.2:p.Ser1592=
ENST00000510690.2:n.1288T>A
ENST00000644079.1:n.1280T>A
ENST00000328300.10:c.4794T>A	ENSP00000331902.6:p.Ser1598=
ENST00000361603.6:c.4776T>A	ENSP00000354505.2:p.Ser1592=
ENST00000504541.1:c.192T>A	ENSP00000424845.1:p.Ser64=
ENST00000515658.1:c.325-1403T>A
NM_000495.4:c.4776T>A	NP_000486.1:p.Ser1592=
NM_033380.2:c.4794T>A	NP_203699.1:p.Ser1598=
XM_005262070.2:c.4785T>A	XP_005262127.1:p.Ser1595=
XM_006724616.2:c.4794T>A	XP_006724679.1:p.Ser1598=
XM_011530849.1:c.4470T>A	XP_011529151.1:p.Ser1490=
XM_011530851.1:c.2367T>A	XP_011529153.1:p.Ser789=
XM_011530849.2:c.4809T>A	XP_011529151.2:p.Ser1603=
XM_017029259.2:c.4800T>A	XP_016884748.1:p.Ser1600=
XM_017029260.1:c.4791T>A	XP_016884749.1:p.Ser1597=
XM_017029263.2:c.3129T>A	XP_016884752.1:p.Ser1043=
NM_000495.5:c.4776T>A	NP_000486.1:p.Ser1592=
NM_033380.3:c.4794T>A MANE Select	NP_203699.1:p.Ser1598=