Canonical Allele Identifier: CA517925917

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938127G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694897G>C , CM000685.2:g.108694897G>C	GRCh38
NC_000023.10:g.107938127G>C , CM000685.1:g.107938127G>C	GRCh37
NC_000023.9:g.107824783G>C	NCBI36
NG_011977.1:g.259974G>C
NG_011977.2:g.259974G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4797G>C MANE Select	ENSP00000331902.7:p.Leu1599=
ENST00000361603.7:c.4779G>C	ENSP00000354505.2:p.Leu1593=
ENST00000510690.2:n.1291G>C
ENST00000644079.1:n.1283G>C
ENST00000328300.10:c.4797G>C	ENSP00000331902.6:p.Leu1599=
ENST00000361603.6:c.4779G>C	ENSP00000354505.2:p.Leu1593=
ENST00000504541.1:c.195G>C	ENSP00000424845.1:p.Leu65=
ENST00000515658.1:c.325-1400G>C
NM_000495.4:c.4779G>C	NP_000486.1:p.Leu1593=
NM_033380.2:c.4797G>C	NP_203699.1:p.Leu1599=
XM_005262070.2:c.4788G>C	XP_005262127.1:p.Leu1596=
XM_006724616.2:c.4797G>C	XP_006724679.1:p.Leu1599=
XM_011530849.1:c.4473G>C	XP_011529151.1:p.Leu1491=
XM_011530851.1:c.2370G>C	XP_011529153.1:p.Leu790=
XM_011530849.2:c.4812G>C	XP_011529151.2:p.Leu1604=
XM_017029259.2:c.4803G>C	XP_016884748.1:p.Leu1601=
XM_017029260.1:c.4794G>C	XP_016884749.1:p.Leu1598=
XM_017029263.2:c.3132G>C	XP_016884752.1:p.Leu1044=
NM_000495.5:c.4779G>C	NP_000486.1:p.Leu1593=
NM_033380.3:c.4797G>C MANE Select	NP_203699.1:p.Leu1599=