Canonical Allele Identifier: CA413853919

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930715C>A (hg19) ; chrX:g.108687485C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687485C>A , CM000685.2:g.108687485C>A	GRCh38
NC_000023.10:g.107930715C>A , CM000685.1:g.107930715C>A	GRCh37
NC_000023.9:g.107817371C>A	NCBI36
NG_011977.1:g.252562C>A
NG_011977.2:g.252562C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4319C>A MANE Select	ENSP00000331902.7:p.Thr1440Asn
ENST00000361603.7:c.4301C>A	ENSP00000354505.2:p.Thr1434Asn
ENST00000510690.2:n.813C>A
ENST00000328300.10:c.4319C>A	ENSP00000331902.6:p.Thr1440Asn
ENST00000361603.6:c.4301C>A	ENSP00000354505.2:p.Thr1434Asn
ENST00000489230.1:n.722C>A
ENST00000515658.1:c.115C>A
NM_000495.4:c.4301C>A	NP_000486.1:p.Thr1434Asn
NM_033380.2:c.4319C>A	NP_203699.1:p.Thr1440Asn
XM_005262070.2:c.4310C>A	XP_005262127.1:p.Thr1437Asn
XM_006724616.2:c.4319C>A	XP_006724679.1:p.Thr1440Asn
XM_011530849.1:c.3995C>A	XP_011529151.1:p.Thr1332Asn
XM_011530851.1:c.1892C>A	XP_011529153.1:p.Thr631Asn
XM_011530849.2:c.4334C>A	XP_011529151.2:p.Thr1445Asn
XM_017029259.2:c.4325C>A	XP_016884748.1:p.Thr1442Asn
XM_017029260.1:c.4316C>A	XP_016884749.1:p.Thr1439Asn
XM_017029263.2:c.2654C>A	XP_016884752.1:p.Thr885Asn
NM_000495.5:c.4301C>A	NP_000486.1:p.Thr1434Asn
NM_033380.3:c.4319C>A MANE Select	NP_203699.1:p.Thr1440Asn