Canonical Allele Identifier: CA413853387

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107867513G>C (hg19) ; chrX:g.108624283G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108624283G>C , CM000685.2:g.108624283G>C	GRCh38
NC_000023.10:g.107867513G>C , CM000685.1:g.107867513G>C	GRCh37
NC_000023.9:g.107754169G>C	NCBI36
NG_011977.1:g.189360G>C
NG_011977.2:g.189360G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.2965G>C MANE Select	ENSP00000331902.7:p.Asp989His
ENST00000361603.7:c.2965G>C	ENSP00000354505.2:p.Asp989His
ENST00000328300.10:c.2965G>C	ENSP00000331902.6:p.Asp989His
ENST00000361603.6:c.2965G>C	ENSP00000354505.2:p.Asp989His
ENST00000483338.1:n.2421G>C
ENST00000505728.1:c.198G>C
NM_000495.4:c.2965G>C	NP_000486.1:p.Asp989His
NM_033380.2:c.2965G>C	NP_203699.1:p.Asp989His
XM_005262070.2:c.2965G>C	XP_005262127.1:p.Asp989His
XM_005262072.3:c.2965G>C	XP_005262129.1:p.Asp989His
XM_006724616.2:c.2965G>C	XP_006724679.1:p.Asp989His
XM_011530849.1:c.2641G>C	XP_011529151.1:p.Asp881His
XM_011530850.1:c.2965G>C	XP_011529152.1:p.Asp989His
XM_011530851.1:c.538G>C	XP_011529153.1:p.Asp180His
XM_011530849.2:c.2980G>C	XP_011529151.2:p.Asp994His
XM_017029259.2:c.2980G>C	XP_016884748.1:p.Asp994His
XM_017029260.1:c.2980G>C	XP_016884749.1:p.Asp994His
XM_017029261.1:c.2980G>C	XP_016884750.1:p.Asp994His
XM_017029262.2:c.2980G>C	XP_016884751.1:p.Asp994His
XM_017029263.2:c.1300G>C	XP_016884752.1:p.Asp434His
NM_000495.5:c.2965G>C	NP_000486.1:p.Asp989His
NM_033380.3:c.2965G>C MANE Select	NP_203699.1:p.Asp989His