Canonical Allele Identifier: CA413854271

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930814A>C (hg19) ; chrX:g.108687584A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687584A>C , CM000685.2:g.108687584A>C	GRCh38
NC_000023.10:g.107930814A>C , CM000685.1:g.107930814A>C	GRCh37
NC_000023.9:g.107817470A>C	NCBI36
NG_011977.1:g.252661A>C
NG_011977.2:g.252661A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4418A>C MANE Select	ENSP00000331902.7:p.His1473Pro
ENST00000361603.7:c.4400A>C	ENSP00000354505.2:p.His1467Pro
ENST00000510690.2:n.912A>C
ENST00000328300.10:c.4418A>C	ENSP00000331902.6:p.His1473Pro
ENST00000361603.6:c.4400A>C	ENSP00000354505.2:p.His1467Pro
ENST00000515658.1:c.214A>C
NM_000495.4:c.4400A>C	NP_000486.1:p.His1467Pro
NM_033380.2:c.4418A>C	NP_203699.1:p.His1473Pro
XM_005262070.2:c.4409A>C	XP_005262127.1:p.His1470Pro
XM_006724616.2:c.4418A>C	XP_006724679.1:p.His1473Pro
XM_011530849.1:c.4094A>C	XP_011529151.1:p.His1365Pro
XM_011530851.1:c.1991A>C	XP_011529153.1:p.His664Pro
XM_011530849.2:c.4433A>C	XP_011529151.2:p.His1478Pro
XM_017029259.2:c.4424A>C	XP_016884748.1:p.His1475Pro
XM_017029260.1:c.4415A>C	XP_016884749.1:p.His1472Pro
XM_017029263.2:c.2753A>C	XP_016884752.1:p.His918Pro
NM_000495.5:c.4400A>C	NP_000486.1:p.His1467Pro
NM_033380.3:c.4418A>C MANE Select	NP_203699.1:p.His1473Pro