Canonical Allele Identifier: CA414132407

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938048G>C (hg19) ; chrX:g.108694818G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694818G>C , CM000685.2:g.108694818G>C	GRCh38
NC_000023.10:g.107938048G>C , CM000685.1:g.107938048G>C	GRCh37
NC_000023.9:g.107824704G>C	NCBI36
NG_011977.1:g.259895G>C
NG_011977.2:g.259895G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4718G>C MANE Select	ENSP00000331902.7:p.Cys1573Ser
ENST00000361603.7:c.4700G>C	ENSP00000354505.2:p.Cys1567Ser
ENST00000510690.2:n.1212G>C
ENST00000644079.1:n.1204G>C
ENST00000328300.10:c.4718G>C	ENSP00000331902.6:p.Cys1573Ser
ENST00000361603.6:c.4700G>C	ENSP00000354505.2:p.Cys1567Ser
ENST00000504541.1:c.116G>C	ENSP00000424845.1:p.Cys39Ser
ENST00000515658.1:c.325-1479G>C
NM_000495.4:c.4700G>C	NP_000486.1:p.Cys1567Ser
NM_033380.2:c.4718G>C	NP_203699.1:p.Cys1573Ser
XM_005262070.2:c.4709G>C	XP_005262127.1:p.Cys1570Ser
XM_006724616.2:c.4718G>C	XP_006724679.1:p.Cys1573Ser
XM_011530849.1:c.4394G>C	XP_011529151.1:p.Cys1465Ser
XM_011530851.1:c.2291G>C	XP_011529153.1:p.Cys764Ser
XM_011530849.2:c.4733G>C	XP_011529151.2:p.Cys1578Ser
XM_017029259.2:c.4724G>C	XP_016884748.1:p.Cys1575Ser
XM_017029260.1:c.4715G>C	XP_016884749.1:p.Cys1572Ser
XM_017029263.2:c.3053G>C	XP_016884752.1:p.Cys1018Ser
NM_000495.5:c.4700G>C	NP_000486.1:p.Cys1567Ser
NM_033380.3:c.4718G>C MANE Select	NP_203699.1:p.Cys1573Ser