Canonical Allele Identifier: CA413854131

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930777A>T (hg19) ; chrX:g.108687547A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687547A>T , CM000685.2:g.108687547A>T	GRCh38
NC_000023.10:g.107930777A>T , CM000685.1:g.107930777A>T	GRCh37
NC_000023.9:g.107817433A>T	NCBI36
NG_011977.1:g.252624A>T
NG_011977.2:g.252624A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4381A>T MANE Select	ENSP00000331902.7:p.Thr1461Ser
ENST00000361603.7:c.4363A>T	ENSP00000354505.2:p.Thr1455Ser
ENST00000510690.2:n.875A>T
ENST00000328300.10:c.4381A>T	ENSP00000331902.6:p.Thr1461Ser
ENST00000361603.6:c.4363A>T	ENSP00000354505.2:p.Thr1455Ser
ENST00000515658.1:c.177A>T
NM_000495.4:c.4363A>T	NP_000486.1:p.Thr1455Ser
NM_033380.2:c.4381A>T	NP_203699.1:p.Thr1461Ser
XM_005262070.2:c.4372A>T	XP_005262127.1:p.Thr1458Ser
XM_006724616.2:c.4381A>T	XP_006724679.1:p.Thr1461Ser
XM_011530849.1:c.4057A>T	XP_011529151.1:p.Thr1353Ser
XM_011530851.1:c.1954A>T	XP_011529153.1:p.Thr652Ser
XM_011530849.2:c.4396A>T	XP_011529151.2:p.Thr1466Ser
XM_017029259.2:c.4387A>T	XP_016884748.1:p.Thr1463Ser
XM_017029260.1:c.4378A>T	XP_016884749.1:p.Thr1460Ser
XM_017029263.2:c.2716A>T	XP_016884752.1:p.Thr906Ser
NM_000495.5:c.4363A>T	NP_000486.1:p.Thr1455Ser
NM_033380.3:c.4381A>T MANE Select	NP_203699.1:p.Thr1461Ser