Canonical Allele Identifier: CA414132543

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938113G>A (hg19) ; chrX:g.108694883G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694883G>A , CM000685.2:g.108694883G>A	GRCh38
NC_000023.10:g.107938113G>A , CM000685.1:g.107938113G>A	GRCh37
NC_000023.9:g.107824769G>A	NCBI36
NG_011977.1:g.259960G>A
NG_011977.2:g.259960G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4783G>A MANE Select	ENSP00000331902.7:p.Gly1595Arg
ENST00000361603.7:c.4765G>A	ENSP00000354505.2:p.Gly1589Arg
ENST00000510690.2:n.1277G>A
ENST00000644079.1:n.1269G>A
ENST00000328300.10:c.4783G>A	ENSP00000331902.6:p.Gly1595Arg
ENST00000361603.6:c.4765G>A	ENSP00000354505.2:p.Gly1589Arg
ENST00000504541.1:c.181G>A	ENSP00000424845.1:p.Gly61Arg
ENST00000515658.1:c.325-1414G>A
NM_000495.4:c.4765G>A	NP_000486.1:p.Gly1589Arg
NM_033380.2:c.4783G>A	NP_203699.1:p.Gly1595Arg
XM_005262070.2:c.4774G>A	XP_005262127.1:p.Gly1592Arg
XM_006724616.2:c.4783G>A	XP_006724679.1:p.Gly1595Arg
XM_011530849.1:c.4459G>A	XP_011529151.1:p.Gly1487Arg
XM_011530851.1:c.2356G>A	XP_011529153.1:p.Gly786Arg
XM_011530849.2:c.4798G>A	XP_011529151.2:p.Gly1600Arg
XM_017029259.2:c.4789G>A	XP_016884748.1:p.Gly1597Arg
XM_017029260.1:c.4780G>A	XP_016884749.1:p.Gly1594Arg
XM_017029263.2:c.3118G>A	XP_016884752.1:p.Gly1040Arg
NM_000495.5:c.4765G>A	NP_000486.1:p.Gly1589Arg
NM_033380.3:c.4783G>A MANE Select	NP_203699.1:p.Gly1595Arg