Canonical Allele Identifier: CA413851123

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107924130G>C (hg19) ; chrX:g.108680900G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680900G>C , CM000685.2:g.108680900G>C	GRCh38
NC_000023.10:g.107924130G>C , CM000685.1:g.107924130G>C	GRCh37
NC_000023.9:g.107810786G>C	NCBI36
NG_011977.1:g.245977G>C
NG_011977.2:g.245977G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4031G>C MANE Select	ENSP00000331902.7:p.Ser1344Thr
ENST00000361603.7:c.4013G>C	ENSP00000354505.2:p.Ser1338Thr
ENST00000510690.2:n.525G>C
ENST00000328300.10:c.4031G>C	ENSP00000331902.6:p.Ser1344Thr
ENST00000361603.6:c.4013G>C	ENSP00000354505.2:p.Ser1338Thr
ENST00000489230.1:n.434G>C
NM_000495.4:c.4013G>C	NP_000486.1:p.Ser1338Thr
NM_033380.2:c.4031G>C	NP_203699.1:p.Ser1344Thr
XM_005262070.2:c.4022G>C	XP_005262127.1:p.Ser1341Thr
XM_006724616.2:c.4031G>C	XP_006724679.1:p.Ser1344Thr
XM_011530849.1:c.3707G>C	XP_011529151.1:p.Ser1236Thr
XM_011530851.1:c.1604G>C	XP_011529153.1:p.Ser535Thr
XM_011530849.2:c.4046G>C	XP_011529151.2:p.Ser1349Thr
XM_017029259.2:c.4037G>C	XP_016884748.1:p.Ser1346Thr
XM_017029260.1:c.4028G>C	XP_016884749.1:p.Ser1343Thr
XM_017029263.2:c.2366G>C	XP_016884752.1:p.Ser789Thr
NM_000495.5:c.4013G>C	NP_000486.1:p.Ser1338Thr
NM_033380.3:c.4031G>C MANE Select	NP_203699.1:p.Ser1344Thr