Canonical Allele Identifier: CA414132565

Gene: COL4A5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4792T>C MANE Select	ENSP00000331902.7:p.Ser1598Pro
ENST00000361603.7:c.4774T>C	ENSP00000354505.2:p.Ser1592Pro
ENST00000510690.2:n.1286T>C
ENST00000644079.1:n.1278T>C
ENST00000328300.10:c.4792T>C	ENSP00000331902.6:p.Ser1598Pro
ENST00000361603.6:c.4774T>C	ENSP00000354505.2:p.Ser1592Pro
ENST00000504541.1:c.190T>C	ENSP00000424845.1:p.Ser64Pro
ENST00000515658.1:c.325-1405T>C
NM_000495.4:c.4774T>C	NP_000486.1:p.Ser1592Pro
NM_033380.2:c.4792T>C	NP_203699.1:p.Ser1598Pro
XM_005262070.2:c.4783T>C	XP_005262127.1:p.Ser1595Pro
XM_006724616.2:c.4792T>C	XP_006724679.1:p.Ser1598Pro
XM_011530849.1:c.4468T>C	XP_011529151.1:p.Ser1490Pro
XM_011530851.1:c.2365T>C	XP_011529153.1:p.Ser789Pro
XM_011530849.2:c.4807T>C	XP_011529151.2:p.Ser1603Pro
XM_017029259.2:c.4798T>C	XP_016884748.1:p.Ser1600Pro
XM_017029260.1:c.4789T>C	XP_016884749.1:p.Ser1597Pro
XM_017029263.2:c.3127T>C	XP_016884752.1:p.Ser1043Pro
NM_000495.5:c.4774T>C	NP_000486.1:p.Ser1592Pro
NM_033380.3:c.4792T>C MANE Select	NP_203699.1:p.Ser1598Pro