Canonical Allele Identifier: CA414132806

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938578T>A (hg19) ; chrX:g.108695348T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695348T>A , CM000685.2:g.108695348T>A	GRCh38
NC_000023.10:g.107938578T>A , CM000685.1:g.107938578T>A	GRCh37
NC_000023.9:g.107825234T>A	NCBI36
NG_011977.1:g.260425T>A
NG_011977.2:g.260425T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4903T>A MANE Select	ENSP00000331902.7:p.Phe1635Ile
ENST00000361603.7:c.4885T>A	ENSP00000354505.2:p.Phe1629Ile
ENST00000510690.2:n.1397T>A
ENST00000644079.1:n.1734T>A
ENST00000328300.10:c.4903T>A	ENSP00000331902.6:p.Phe1635Ile
ENST00000361603.6:c.4885T>A	ENSP00000354505.2:p.Phe1629Ile
ENST00000504541.1:c.219+427T>A	ENSP00000424845.1:n.219+427T>A
ENST00000515658.1:c.325-949T>A
NM_000495.4:c.4885T>A	NP_000486.1:p.Phe1629Ile
NM_033380.2:c.4903T>A	NP_203699.1:p.Phe1635Ile
XM_005262070.2:c.4894T>A	XP_005262127.1:p.Phe1632Ile
XM_006724616.2:c.4903T>A	XP_006724679.1:p.Phe1635Ile
XM_011530849.1:c.4579T>A	XP_011529151.1:p.Phe1527Ile
XM_011530851.1:c.2476T>A	XP_011529153.1:p.Phe826Ile
XM_011530849.2:c.4918T>A	XP_011529151.2:p.Phe1640Ile
XM_017029259.2:c.4909T>A	XP_016884748.1:p.Phe1637Ile
XM_017029260.1:c.4900T>A	XP_016884749.1:p.Phe1634Ile
XM_017029263.2:c.3238T>A	XP_016884752.1:p.Phe1080Ile
NM_000495.5:c.4885T>A	NP_000486.1:p.Phe1629Ile
NM_033380.3:c.4903T>A MANE Select	NP_203699.1:p.Phe1635Ile