Canonical Allele Identifier: CA414132730

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938542C>A (hg19) ; chrX:g.108695312C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695312C>A , CM000685.2:g.108695312C>A	GRCh38
NC_000023.10:g.107938542C>A , CM000685.1:g.107938542C>A	GRCh37
NC_000023.9:g.107825198C>A	NCBI36
NG_011977.1:g.260389C>A
NG_011977.2:g.260389C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4867C>A MANE Select	ENSP00000331902.7:p.Pro1623Thr
ENST00000361603.7:c.4849C>A	ENSP00000354505.2:p.Pro1617Thr
ENST00000510690.2:n.1361C>A
ENST00000644079.1:n.1698C>A
ENST00000328300.10:c.4867C>A	ENSP00000331902.6:p.Pro1623Thr
ENST00000361603.6:c.4849C>A	ENSP00000354505.2:p.Pro1617Thr
ENST00000504541.1:c.219+391C>A	ENSP00000424845.1:n.219+391C>A
ENST00000515658.1:c.325-985C>A
NM_000495.4:c.4849C>A	NP_000486.1:p.Pro1617Thr
NM_033380.2:c.4867C>A	NP_203699.1:p.Pro1623Thr
XM_005262070.2:c.4858C>A	XP_005262127.1:p.Pro1620Thr
XM_006724616.2:c.4867C>A	XP_006724679.1:p.Pro1623Thr
XM_011530849.1:c.4543C>A	XP_011529151.1:p.Pro1515Thr
XM_011530851.1:c.2440C>A	XP_011529153.1:p.Pro814Thr
XM_011530849.2:c.4882C>A	XP_011529151.2:p.Pro1628Thr
XM_017029259.2:c.4873C>A	XP_016884748.1:p.Pro1625Thr
XM_017029260.1:c.4864C>A	XP_016884749.1:p.Pro1622Thr
XM_017029263.2:c.3202C>A	XP_016884752.1:p.Pro1068Thr
NM_000495.5:c.4849C>A	NP_000486.1:p.Pro1617Thr
NM_033380.3:c.4867C>A MANE Select	NP_203699.1:p.Pro1623Thr