Canonical Allele Identifier: CA414132507

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938096T>C (hg19) ; chrX:g.108694866T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694866T>C , CM000685.2:g.108694866T>C	GRCh38
NC_000023.10:g.107938096T>C , CM000685.1:g.107938096T>C	GRCh37
NC_000023.9:g.107824752T>C	NCBI36
NG_011977.1:g.259943T>C
NG_011977.2:g.259943T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4766T>C MANE Select	ENSP00000331902.7:p.Ile1589Thr
ENST00000361603.7:c.4748T>C	ENSP00000354505.2:p.Ile1583Thr
ENST00000510690.2:n.1260T>C
ENST00000644079.1:n.1252T>C
ENST00000328300.10:c.4766T>C	ENSP00000331902.6:p.Ile1589Thr
ENST00000361603.6:c.4748T>C	ENSP00000354505.2:p.Ile1583Thr
ENST00000504541.1:c.164T>C	ENSP00000424845.1:p.Ile55Thr
ENST00000515658.1:c.325-1431T>C
NM_000495.4:c.4748T>C	NP_000486.1:p.Ile1583Thr
NM_033380.2:c.4766T>C	NP_203699.1:p.Ile1589Thr
XM_005262070.2:c.4757T>C	XP_005262127.1:p.Ile1586Thr
XM_006724616.2:c.4766T>C	XP_006724679.1:p.Ile1589Thr
XM_011530849.1:c.4442T>C	XP_011529151.1:p.Ile1481Thr
XM_011530851.1:c.2339T>C	XP_011529153.1:p.Ile780Thr
XM_011530849.2:c.4781T>C	XP_011529151.2:p.Ile1594Thr
XM_017029259.2:c.4772T>C	XP_016884748.1:p.Ile1591Thr
XM_017029260.1:c.4763T>C	XP_016884749.1:p.Ile1588Thr
XM_017029263.2:c.3101T>C	XP_016884752.1:p.Ile1034Thr
NM_000495.5:c.4748T>C	NP_000486.1:p.Ile1583Thr
NM_033380.3:c.4766T>C MANE Select	NP_203699.1:p.Ile1589Thr