Canonical Allele Identifier: CA414132473

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938081G>T (hg19) ; chrX:g.108694851G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694851G>T , CM000685.2:g.108694851G>T	GRCh38
NC_000023.10:g.107938081G>T , CM000685.1:g.107938081G>T	GRCh37
NC_000023.9:g.107824737G>T	NCBI36
NG_011977.1:g.259928G>T
NG_011977.2:g.259928G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4751G>T MANE Select	ENSP00000331902.7:p.Ser1584Ile
ENST00000361603.7:c.4733G>T	ENSP00000354505.2:p.Ser1578Ile
ENST00000510690.2:n.1245G>T
ENST00000644079.1:n.1237G>T
ENST00000328300.10:c.4751G>T	ENSP00000331902.6:p.Ser1584Ile
ENST00000361603.6:c.4733G>T	ENSP00000354505.2:p.Ser1578Ile
ENST00000504541.1:c.149G>T	ENSP00000424845.1:p.Ser50Ile
ENST00000515658.1:c.325-1446G>T
NM_000495.4:c.4733G>T	NP_000486.1:p.Ser1578Ile
NM_033380.2:c.4751G>T	NP_203699.1:p.Ser1584Ile
XM_005262070.2:c.4742G>T	XP_005262127.1:p.Ser1581Ile
XM_006724616.2:c.4751G>T	XP_006724679.1:p.Ser1584Ile
XM_011530849.1:c.4427G>T	XP_011529151.1:p.Ser1476Ile
XM_011530851.1:c.2324G>T	XP_011529153.1:p.Ser775Ile
XM_011530849.2:c.4766G>T	XP_011529151.2:p.Ser1589Ile
XM_017029259.2:c.4757G>T	XP_016884748.1:p.Ser1586Ile
XM_017029260.1:c.4748G>T	XP_016884749.1:p.Ser1583Ile
XM_017029263.2:c.3086G>T	XP_016884752.1:p.Ser1029Ile
NM_000495.5:c.4733G>T	NP_000486.1:p.Ser1578Ile
NM_033380.3:c.4751G>T MANE Select	NP_203699.1:p.Ser1584Ile