Canonical Allele Identifier: CA413851113

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107924124G>T (hg19) ; chrX:g.108680894G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680894G>T , CM000685.2:g.108680894G>T	GRCh38
NC_000023.10:g.107924124G>T , CM000685.1:g.107924124G>T	GRCh37
NC_000023.9:g.107810780G>T	NCBI36
NG_011977.1:g.245971G>T
NG_011977.2:g.245971G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4025G>T MANE Select	ENSP00000331902.7:p.Gly1342Val
ENST00000361603.7:c.4007G>T	ENSP00000354505.2:p.Gly1336Val
ENST00000510690.2:n.519G>T
ENST00000328300.10:c.4025G>T	ENSP00000331902.6:p.Gly1342Val
ENST00000361603.6:c.4007G>T	ENSP00000354505.2:p.Gly1336Val
ENST00000489230.1:n.428G>T
NM_000495.4:c.4007G>T	NP_000486.1:p.Gly1336Val
NM_033380.2:c.4025G>T	NP_203699.1:p.Gly1342Val
XM_005262070.2:c.4016G>T	XP_005262127.1:p.Gly1339Val
XM_006724616.2:c.4025G>T	XP_006724679.1:p.Gly1342Val
XM_011530849.1:c.3701G>T	XP_011529151.1:p.Gly1234Val
XM_011530851.1:c.1598G>T	XP_011529153.1:p.Gly533Val
XM_011530849.2:c.4040G>T	XP_011529151.2:p.Gly1347Val
XM_017029259.2:c.4031G>T	XP_016884748.1:p.Gly1344Val
XM_017029260.1:c.4022G>T	XP_016884749.1:p.Gly1341Val
XM_017029263.2:c.2360G>T	XP_016884752.1:p.Gly787Val
NM_000495.5:c.4007G>T	NP_000486.1:p.Gly1336Val
NM_033380.3:c.4025G>T MANE Select	NP_203699.1:p.Gly1342Val