Canonical Allele Identifier: CA413854783

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930910A>T (hg19) ; chrX:g.108687680A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687680A>T , CM000685.2:g.108687680A>T	GRCh38
NC_000023.10:g.107930910A>T , CM000685.1:g.107930910A>T	GRCh37
NC_000023.9:g.107817566A>T	NCBI36
NG_011977.1:g.252757A>T
NG_011977.2:g.252757A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4514A>T MANE Select	ENSP00000331902.7:p.His1505Leu
ENST00000361603.7:c.4496A>T	ENSP00000354505.2:p.His1499Leu
ENST00000510690.2:n.1008A>T
ENST00000328300.10:c.4514A>T	ENSP00000331902.6:p.His1505Leu
ENST00000361603.6:c.4496A>T	ENSP00000354505.2:p.His1499Leu
ENST00000515658.1:c.310A>T
NM_000495.4:c.4496A>T	NP_000486.1:p.His1499Leu
NM_033380.2:c.4514A>T	NP_203699.1:p.His1505Leu
XM_005262070.2:c.4505A>T	XP_005262127.1:p.His1502Leu
XM_006724616.2:c.4514A>T	XP_006724679.1:p.His1505Leu
XM_011530849.1:c.4190A>T	XP_011529151.1:p.His1397Leu
XM_011530851.1:c.2087A>T	XP_011529153.1:p.His696Leu
XM_011530849.2:c.4529A>T	XP_011529151.2:p.His1510Leu
XM_017029259.2:c.4520A>T	XP_016884748.1:p.His1507Leu
XM_017029260.1:c.4511A>T	XP_016884749.1:p.His1504Leu
XM_017029263.2:c.2849A>T	XP_016884752.1:p.His950Leu
NM_000495.5:c.4496A>T	NP_000486.1:p.His1499Leu
NM_033380.3:c.4514A>T MANE Select	NP_203699.1:p.His1505Leu