Canonical Allele Identifier: CA414132497

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938092C>A (hg19) ; chrX:g.108694862C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694862C>A , CM000685.2:g.108694862C>A	GRCh38
NC_000023.10:g.107938092C>A , CM000685.1:g.107938092C>A	GRCh37
NC_000023.9:g.107824748C>A	NCBI36
NG_011977.1:g.259939C>A
NG_011977.2:g.259939C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4762C>A MANE Select	ENSP00000331902.7:p.Gln1588Lys
ENST00000361603.7:c.4744C>A	ENSP00000354505.2:p.Gln1582Lys
ENST00000510690.2:n.1256C>A
ENST00000644079.1:n.1248C>A
ENST00000328300.10:c.4762C>A	ENSP00000331902.6:p.Gln1588Lys
ENST00000361603.6:c.4744C>A	ENSP00000354505.2:p.Gln1582Lys
ENST00000504541.1:c.160C>A	ENSP00000424845.1:p.Gln54Lys
ENST00000515658.1:c.325-1435C>A
NM_000495.4:c.4744C>A	NP_000486.1:p.Gln1582Lys
NM_033380.2:c.4762C>A	NP_203699.1:p.Gln1588Lys
XM_005262070.2:c.4753C>A	XP_005262127.1:p.Gln1585Lys
XM_006724616.2:c.4762C>A	XP_006724679.1:p.Gln1588Lys
XM_011530849.1:c.4438C>A	XP_011529151.1:p.Gln1480Lys
XM_011530851.1:c.2335C>A	XP_011529153.1:p.Gln779Lys
XM_011530849.2:c.4777C>A	XP_011529151.2:p.Gln1593Lys
XM_017029259.2:c.4768C>A	XP_016884748.1:p.Gln1590Lys
XM_017029260.1:c.4759C>A	XP_016884749.1:p.Gln1587Lys
XM_017029263.2:c.3097C>A	XP_016884752.1:p.Gln1033Lys
NM_000495.5:c.4744C>A	NP_000486.1:p.Gln1582Lys
NM_033380.3:c.4762C>A MANE Select	NP_203699.1:p.Gln1588Lys