Canonical Allele Identifier: CA259015

Gene: COL4A5

Linked Data

• dbSNP Id: rs104886273
• MyVariant Identifiers: chrX:g.107929341G>T (hg19) ; chrX:g.108686111G>T (hg38)
• PubMed: PMID:15954103

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686111G>T , CM000685.2:g.108686111G>T	GRCh38
NC_000023.10:g.107929341G>T , CM000685.1:g.107929341G>T	GRCh37
NC_000023.9:g.107815997G>T	NCBI36
NG_011977.1:g.251188G>T
NG_011977.2:g.251188G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4297G>T MANE Select	ENSP00000331902.7:p.Gly1433Cys
ENST00000361603.7:c.4279G>T	ENSP00000354505.2:p.Gly1427Cys
ENST00000510690.2:n.791G>T
ENST00000328300.10:c.4297G>T	ENSP00000331902.6:p.Gly1433Cys
ENST00000361603.6:c.4279G>T	ENSP00000354505.2:p.Gly1427Cys
ENST00000489230.1:n.700G>T
ENST00000515658.1:c.93G>T
NM_000495.4:c.4279G>T	NP_000486.1:p.Gly1427Cys
NM_033380.2:c.4297G>T	NP_203699.1:p.Gly1433Cys
XM_005262070.2:c.4288G>T	XP_005262127.1:p.Gly1430Cys
XM_006724616.2:c.4297G>T	XP_006724679.1:p.Gly1433Cys
XM_011530849.1:c.3973G>T	XP_011529151.1:p.Gly1325Cys
XM_011530851.1:c.1870G>T	XP_011529153.1:p.Gly624Cys
XM_011530849.2:c.4312G>T	XP_011529151.2:p.Gly1438Cys
XM_017029259.2:c.4303G>T	XP_016884748.1:p.Gly1435Cys
XM_017029260.1:c.4294G>T	XP_016884749.1:p.Gly1432Cys
XM_017029263.2:c.2632G>T	XP_016884752.1:p.Gly878Cys
NM_000495.5:c.4279G>T	NP_000486.1:p.Gly1427Cys
NM_033380.3:c.4297G>T MANE Select	NP_203699.1:p.Gly1433Cys