Canonical Allele Identifier: CA334063056

Gene: COL4A5

Linked Data

• dbSNP Id: rs112609729
• MyVariant Identifiers: chrX:g.107938137T>C (hg19) ; chrX:g.108694907T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694907T>C , CM000685.2:g.108694907T>C	GRCh38
NC_000023.10:g.107938137T>C , CM000685.1:g.107938137T>C	GRCh37
NC_000023.9:g.107824793T>C	NCBI36
NG_011977.1:g.259984T>C
NG_011977.2:g.259984T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4807T>C MANE Select	ENSP00000331902.7:p.Tyr1603His
ENST00000361603.7:c.4789T>C	ENSP00000354505.2:p.Tyr1597His
ENST00000510690.2:n.1301T>C
ENST00000644079.1:n.1293T>C
ENST00000328300.10:c.4807T>C	ENSP00000331902.6:p.Tyr1603His
ENST00000361603.6:c.4789T>C	ENSP00000354505.2:p.Tyr1597His
ENST00000504541.1:c.205T>C	ENSP00000424845.1:p.Tyr69His
ENST00000515658.1:c.325-1390T>C
NM_000495.4:c.4789T>C	NP_000486.1:p.Tyr1597His
NM_033380.2:c.4807T>C	NP_203699.1:p.Tyr1603His
XM_005262070.2:c.4798T>C	XP_005262127.1:p.Tyr1600His
XM_006724616.2:c.4807T>C	XP_006724679.1:p.Tyr1603His
XM_011530849.1:c.4483T>C	XP_011529151.1:p.Tyr1495His
XM_011530851.1:c.2380T>C	XP_011529153.1:p.Tyr794His
XM_011530849.2:c.4822T>C	XP_011529151.2:p.Tyr1608His
XM_017029259.2:c.4813T>C	XP_016884748.1:p.Tyr1605His
XM_017029260.1:c.4804T>C	XP_016884749.1:p.Tyr1602His
XM_017029263.2:c.3142T>C	XP_016884752.1:p.Tyr1048His
NM_000495.5:c.4789T>C	NP_000486.1:p.Tyr1597His
NM_033380.3:c.4807T>C MANE Select	NP_203699.1:p.Tyr1603His