Canonical Allele Identifier: CA414133042

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107939532C>A (hg19) ; chrX:g.108696302C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696302C>A , CM000685.2:g.108696302C>A	GRCh38
NC_000023.10:g.107939532C>A , CM000685.1:g.107939532C>A	GRCh37
NC_000023.9:g.107826188C>A	NCBI36
NG_011977.1:g.261379C>A
NG_011977.2:g.261379C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.5000C>A MANE Select	ENSP00000331902.7:p.Pro1667His
ENST00000361603.7:c.4982C>A	ENSP00000354505.2:p.Pro1661His
ENST00000510690.2:n.1494C>A
ENST00000644079.1:n.2688C>A
ENST00000328300.10:c.5000C>A	ENSP00000331902.6:p.Pro1667His
ENST00000361603.6:c.4982C>A	ENSP00000354505.2:p.Pro1661His
ENST00000504541.1:c.225C>A	ENSP00000424845.1:n.225C>A
ENST00000515658.1:c.330C>A
NM_000495.4:c.4982C>A	NP_000486.1:p.Pro1661His
NM_033380.2:c.5000C>A	NP_203699.1:p.Pro1667His
XM_005262070.2:c.4991C>A	XP_005262127.1:p.Pro1664His
XM_006724616.2:c.5000C>A	XP_006724679.1:p.Pro1667His
XM_011530849.1:c.4676C>A	XP_011529151.1:p.Pro1559His
XM_011530851.1:c.2573C>A	XP_011529153.1:p.Pro858His
XM_011530849.2:c.5015C>A	XP_011529151.2:p.Pro1672His
XM_017029259.2:c.5006C>A	XP_016884748.1:p.Pro1669His
XM_017029260.1:c.4997C>A	XP_016884749.1:p.Pro1666His
XM_017029263.2:c.3335C>A	XP_016884752.1:p.Pro1112His
NM_000495.5:c.4982C>A	NP_000486.1:p.Pro1661His
NM_033380.3:c.5000C>A MANE Select	NP_203699.1:p.Pro1667His