Canonical Allele Identifier: CA413853961

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930726G>T (hg19) ; chrX:g.108687496G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687496G>T , CM000685.2:g.108687496G>T	GRCh38
NC_000023.10:g.107930726G>T , CM000685.1:g.107930726G>T	GRCh37
NC_000023.9:g.107817382G>T	NCBI36
NG_011977.1:g.252573G>T
NG_011977.2:g.252573G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4330G>T MANE Select	ENSP00000331902.7:p.Asp1444Tyr
ENST00000361603.7:c.4312G>T	ENSP00000354505.2:p.Asp1438Tyr
ENST00000510690.2:n.824G>T
ENST00000328300.10:c.4330G>T	ENSP00000331902.6:p.Asp1444Tyr
ENST00000361603.6:c.4312G>T	ENSP00000354505.2:p.Asp1438Tyr
ENST00000489230.1:n.733G>T
ENST00000515658.1:c.126G>T
NM_000495.4:c.4312G>T	NP_000486.1:p.Asp1438Tyr
NM_033380.2:c.4330G>T	NP_203699.1:p.Asp1444Tyr
XM_005262070.2:c.4321G>T	XP_005262127.1:p.Asp1441Tyr
XM_006724616.2:c.4330G>T	XP_006724679.1:p.Asp1444Tyr
XM_011530849.1:c.4006G>T	XP_011529151.1:p.Asp1336Tyr
XM_011530851.1:c.1903G>T	XP_011529153.1:p.Asp635Tyr
XM_011530849.2:c.4345G>T	XP_011529151.2:p.Asp1449Tyr
XM_017029259.2:c.4336G>T	XP_016884748.1:p.Asp1446Tyr
XM_017029260.1:c.4327G>T	XP_016884749.1:p.Asp1443Tyr
XM_017029263.2:c.2665G>T	XP_016884752.1:p.Asp889Tyr
NM_000495.5:c.4312G>T	NP_000486.1:p.Asp1438Tyr
NM_033380.3:c.4330G>T MANE Select	NP_203699.1:p.Asp1444Tyr