Canonical Allele Identifier: CA413853948

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930724T>A (hg19) ; chrX:g.108687494T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687494T>A , CM000685.2:g.108687494T>A	GRCh38
NC_000023.10:g.107930724T>A , CM000685.1:g.107930724T>A	GRCh37
NC_000023.9:g.107817380T>A	NCBI36
NG_011977.1:g.252571T>A
NG_011977.2:g.252571T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4328T>A MANE Select	ENSP00000331902.7:p.Leu1443Ter
ENST00000361603.7:c.4310T>A	ENSP00000354505.2:p.Leu1437Ter
ENST00000510690.2:n.822T>A
ENST00000328300.10:c.4328T>A	ENSP00000331902.6:p.Leu1443Ter
ENST00000361603.6:c.4310T>A	ENSP00000354505.2:p.Leu1437Ter
ENST00000489230.1:n.731T>A
ENST00000515658.1:c.124T>A
NM_000495.4:c.4310T>A	NP_000486.1:p.Leu1437Ter
NM_033380.2:c.4328T>A	NP_203699.1:p.Leu1443Ter
XM_005262070.2:c.4319T>A	XP_005262127.1:p.Leu1440Ter
XM_006724616.2:c.4328T>A	XP_006724679.1:p.Leu1443Ter
XM_011530849.1:c.4004T>A	XP_011529151.1:p.Leu1335Ter
XM_011530851.1:c.1901T>A	XP_011529153.1:p.Leu634Ter
XM_011530849.2:c.4343T>A	XP_011529151.2:p.Leu1448Ter
XM_017029259.2:c.4334T>A	XP_016884748.1:p.Leu1445Ter
XM_017029260.1:c.4325T>A	XP_016884749.1:p.Leu1442Ter
XM_017029263.2:c.2663T>A	XP_016884752.1:p.Leu888Ter
NM_000495.5:c.4310T>A	NP_000486.1:p.Leu1437Ter
NM_033380.3:c.4328T>A MANE Select	NP_203699.1:p.Leu1443Ter