Canonical Allele Identifier: CA259120

Gene: COL4A5

Linked Data

• dbSNP Id: rs104886299
• MyVariant Identifiers: chrX:g.107938139T>A (hg19) ; chrX:g.108694909T>A (hg38)
• PubMed: PMID:9848783

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694909T>A , CM000685.2:g.108694909T>A	GRCh38
NC_000023.10:g.107938139T>A , CM000685.1:g.107938139T>A	GRCh37
NC_000023.9:g.107824795T>A	NCBI36
NG_011977.1:g.259986T>A
NG_011977.2:g.259986T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4809T>A MANE Select	ENSP00000331902.7:p.Tyr1603Ter
ENST00000361603.7:c.4791T>A	ENSP00000354505.2:p.Tyr1597Ter
ENST00000510690.2:n.1303T>A
ENST00000644079.1:n.1295T>A
ENST00000328300.10:c.4809T>A	ENSP00000331902.6:p.Tyr1603Ter
ENST00000361603.6:c.4791T>A	ENSP00000354505.2:p.Tyr1597Ter
ENST00000504541.1:c.207T>A	ENSP00000424845.1:p.Tyr69Ter
ENST00000515658.1:c.325-1388T>A
NM_000495.4:c.4791T>A	NP_000486.1:p.Tyr1597Ter
NM_033380.2:c.4809T>A	NP_203699.1:p.Tyr1603Ter
XM_005262070.2:c.4800T>A	XP_005262127.1:p.Tyr1600Ter
XM_006724616.2:c.4809T>A	XP_006724679.1:p.Tyr1603Ter
XM_011530849.1:c.4485T>A	XP_011529151.1:p.Tyr1495Ter
XM_011530851.1:c.2382T>A	XP_011529153.1:p.Tyr794Ter
XM_011530849.2:c.4824T>A	XP_011529151.2:p.Tyr1608Ter
XM_017029259.2:c.4815T>A	XP_016884748.1:p.Tyr1605Ter
XM_017029260.1:c.4806T>A	XP_016884749.1:p.Tyr1602Ter
XM_017029263.2:c.3144T>A	XP_016884752.1:p.Tyr1048Ter
NM_000495.5:c.4791T>A	NP_000486.1:p.Tyr1597Ter
NM_033380.3:c.4809T>A MANE Select	NP_203699.1:p.Tyr1603Ter