Canonical Allele Identifier: CA413854218

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930800T>A (hg19) ; chrX:g.108687570T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687570T>A , CM000685.2:g.108687570T>A	GRCh38
NC_000023.10:g.107930800T>A , CM000685.1:g.107930800T>A	GRCh37
NC_000023.9:g.107817456T>A	NCBI36
NG_011977.1:g.252647T>A
NG_011977.2:g.252647T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4404T>A MANE Select	ENSP00000331902.7:p.Phe1468Leu
ENST00000361603.7:c.4386T>A	ENSP00000354505.2:p.Phe1462Leu
ENST00000510690.2:n.898T>A
ENST00000328300.10:c.4404T>A	ENSP00000331902.6:p.Phe1468Leu
ENST00000361603.6:c.4386T>A	ENSP00000354505.2:p.Phe1462Leu
ENST00000515658.1:c.200T>A
NM_000495.4:c.4386T>A	NP_000486.1:p.Phe1462Leu
NM_033380.2:c.4404T>A	NP_203699.1:p.Phe1468Leu
XM_005262070.2:c.4395T>A	XP_005262127.1:p.Phe1465Leu
XM_006724616.2:c.4404T>A	XP_006724679.1:p.Phe1468Leu
XM_011530849.1:c.4080T>A	XP_011529151.1:p.Phe1360Leu
XM_011530851.1:c.1977T>A	XP_011529153.1:p.Phe659Leu
XM_011530849.2:c.4419T>A	XP_011529151.2:p.Phe1473Leu
XM_017029259.2:c.4410T>A	XP_016884748.1:p.Phe1470Leu
XM_017029260.1:c.4401T>A	XP_016884749.1:p.Phe1467Leu
XM_017029263.2:c.2739T>A	XP_016884752.1:p.Phe913Leu
NM_000495.5:c.4386T>A	NP_000486.1:p.Phe1462Leu
NM_033380.3:c.4404T>A MANE Select	NP_203699.1:p.Phe1468Leu