Canonical Allele Identifier: CA413855336

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107936010A>C (hg19) ; chrX:g.108692780A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108692780A>C , CM000685.2:g.108692780A>C	GRCh38
NC_000023.10:g.107936010A>C , CM000685.1:g.107936010A>C	GRCh37
NC_000023.9:g.107822666A>C	NCBI36
NG_011977.1:g.257857A>C
NG_011977.2:g.257857A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4561A>C MANE Select	ENSP00000331902.7:p.Thr1521Pro
ENST00000361603.7:c.4543A>C	ENSP00000354505.2:p.Thr1515Pro
ENST00000510690.2:n.1055A>C
ENST00000328300.10:c.4561A>C	ENSP00000331902.6:p.Thr1521Pro
ENST00000361603.6:c.4543A>C	ENSP00000354505.2:p.Thr1515Pro
ENST00000515658.1:c.325-3517A>C
NM_000495.4:c.4543A>C	NP_000486.1:p.Thr1515Pro
NM_033380.2:c.4561A>C	NP_203699.1:p.Thr1521Pro
XM_005262070.2:c.4552A>C	XP_005262127.1:p.Thr1518Pro
XM_006724616.2:c.4561A>C	XP_006724679.1:p.Thr1521Pro
XM_011530849.1:c.4237A>C	XP_011529151.1:p.Thr1413Pro
XM_011530851.1:c.2134A>C	XP_011529153.1:p.Thr712Pro
XM_011530849.2:c.4576A>C	XP_011529151.2:p.Thr1526Pro
XM_017029259.2:c.4567A>C	XP_016884748.1:p.Thr1523Pro
XM_017029260.1:c.4558A>C	XP_016884749.1:p.Thr1520Pro
XM_017029263.2:c.2896A>C	XP_016884752.1:p.Thr966Pro
NM_000495.5:c.4543A>C	NP_000486.1:p.Thr1515Pro
NM_033380.3:c.4561A>C MANE Select	NP_203699.1:p.Thr1521Pro