Canonical Allele Identifier: CA414132564

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938122T>A (hg19) ; chrX:g.108694892T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694892T>A , CM000685.2:g.108694892T>A	GRCh38
NC_000023.10:g.107938122T>A , CM000685.1:g.107938122T>A	GRCh37
NC_000023.9:g.107824778T>A	NCBI36
NG_011977.1:g.259969T>A
NG_011977.2:g.259969T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4792T>A MANE Select	ENSP00000331902.7:p.Ser1598Thr
ENST00000361603.7:c.4774T>A	ENSP00000354505.2:p.Ser1592Thr
ENST00000510690.2:n.1286T>A
ENST00000644079.1:n.1278T>A
ENST00000328300.10:c.4792T>A	ENSP00000331902.6:p.Ser1598Thr
ENST00000361603.6:c.4774T>A	ENSP00000354505.2:p.Ser1592Thr
ENST00000504541.1:c.190T>A	ENSP00000424845.1:p.Ser64Thr
ENST00000515658.1:c.325-1405T>A
NM_000495.4:c.4774T>A	NP_000486.1:p.Ser1592Thr
NM_033380.2:c.4792T>A	NP_203699.1:p.Ser1598Thr
XM_005262070.2:c.4783T>A	XP_005262127.1:p.Ser1595Thr
XM_006724616.2:c.4792T>A	XP_006724679.1:p.Ser1598Thr
XM_011530849.1:c.4468T>A	XP_011529151.1:p.Ser1490Thr
XM_011530851.1:c.2365T>A	XP_011529153.1:p.Ser789Thr
XM_011530849.2:c.4807T>A	XP_011529151.2:p.Ser1603Thr
XM_017029259.2:c.4798T>A	XP_016884748.1:p.Ser1600Thr
XM_017029260.1:c.4789T>A	XP_016884749.1:p.Ser1597Thr
XM_017029263.2:c.3127T>A	XP_016884752.1:p.Ser1043Thr
NM_000495.5:c.4774T>A	NP_000486.1:p.Ser1592Thr
NM_033380.3:c.4792T>A MANE Select	NP_203699.1:p.Ser1598Thr