Canonical Allele Identifier: CA413851900

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107924999G>T (hg19) ; chrX:g.108681769G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681769G>T , CM000685.2:g.108681769G>T	GRCh38
NC_000023.10:g.107924999G>T , CM000685.1:g.107924999G>T	GRCh37
NC_000023.9:g.107811655G>T	NCBI36
NG_011977.1:g.246846G>T
NG_011977.2:g.246846G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4097G>T MANE Select	ENSP00000331902.7:p.Gly1366Val
ENST00000361603.7:c.4079G>T	ENSP00000354505.2:p.Gly1360Val
ENST00000510690.2:n.591G>T
ENST00000328300.10:c.4097G>T	ENSP00000331902.6:p.Gly1366Val
ENST00000361603.6:c.4079G>T	ENSP00000354505.2:p.Gly1360Val
ENST00000489230.1:n.500G>T
NM_000495.4:c.4079G>T	NP_000486.1:p.Gly1360Val
NM_033380.2:c.4097G>T	NP_203699.1:p.Gly1366Val
XM_005262070.2:c.4088G>T	XP_005262127.1:p.Gly1363Val
XM_006724616.2:c.4097G>T	XP_006724679.1:p.Gly1366Val
XM_011530849.1:c.3773G>T	XP_011529151.1:p.Gly1258Val
XM_011530851.1:c.1670G>T	XP_011529153.1:p.Gly557Val
XM_011530849.2:c.4112G>T	XP_011529151.2:p.Gly1371Val
XM_017029259.2:c.4103G>T	XP_016884748.1:p.Gly1368Val
XM_017029260.1:c.4094G>T	XP_016884749.1:p.Gly1365Val
XM_017029263.2:c.2432G>T	XP_016884752.1:p.Gly811Val
NM_000495.5:c.4079G>T	NP_000486.1:p.Gly1360Val
NM_033380.3:c.4097G>T MANE Select	NP_203699.1:p.Gly1366Val