Canonical Allele Identifier: CA414132589

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938134G>C (hg19) ; chrX:g.108694904G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694904G>C , CM000685.2:g.108694904G>C	GRCh38
NC_000023.10:g.107938134G>C , CM000685.1:g.107938134G>C	GRCh37
NC_000023.9:g.107824790G>C	NCBI36
NG_011977.1:g.259981G>C
NG_011977.2:g.259981G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4804G>C MANE Select	ENSP00000331902.7:p.Gly1602Arg
ENST00000361603.7:c.4786G>C	ENSP00000354505.2:p.Gly1596Arg
ENST00000510690.2:n.1298G>C
ENST00000644079.1:n.1290G>C
ENST00000328300.10:c.4804G>C	ENSP00000331902.6:p.Gly1602Arg
ENST00000361603.6:c.4786G>C	ENSP00000354505.2:p.Gly1596Arg
ENST00000504541.1:c.202G>C	ENSP00000424845.1:p.Gly68Arg
ENST00000515658.1:c.325-1393G>C
NM_000495.4:c.4786G>C	NP_000486.1:p.Gly1596Arg
NM_033380.2:c.4804G>C	NP_203699.1:p.Gly1602Arg
XM_005262070.2:c.4795G>C	XP_005262127.1:p.Gly1599Arg
XM_006724616.2:c.4804G>C	XP_006724679.1:p.Gly1602Arg
XM_011530849.1:c.4480G>C	XP_011529151.1:p.Gly1494Arg
XM_011530851.1:c.2377G>C	XP_011529153.1:p.Gly793Arg
XM_011530849.2:c.4819G>C	XP_011529151.2:p.Gly1607Arg
XM_017029259.2:c.4810G>C	XP_016884748.1:p.Gly1604Arg
XM_017029260.1:c.4801G>C	XP_016884749.1:p.Gly1601Arg
XM_017029263.2:c.3139G>C	XP_016884752.1:p.Gly1047Arg
NM_000495.5:c.4786G>C	NP_000486.1:p.Gly1596Arg
NM_033380.3:c.4804G>C MANE Select	NP_203699.1:p.Gly1602Arg