Canonical Allele Identifier: CA414132676

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938515G>A (hg19) ; chrX:g.108695285G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695285G>A , CM000685.2:g.108695285G>A	GRCh38
NC_000023.10:g.107938515G>A , CM000685.1:g.107938515G>A	GRCh37
NC_000023.9:g.107825171G>A	NCBI36
NG_011977.1:g.260362G>A
NG_011977.2:g.260362G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4840G>A MANE Select	ENSP00000331902.7:p.Glu1614Lys
ENST00000361603.7:c.4822G>A	ENSP00000354505.2:p.Glu1608Lys
ENST00000510690.2:n.1334G>A
ENST00000644079.1:n.1671G>A
ENST00000328300.10:c.4840G>A	ENSP00000331902.6:p.Glu1614Lys
ENST00000361603.6:c.4822G>A	ENSP00000354505.2:p.Glu1608Lys
ENST00000504541.1:c.219+364G>A	ENSP00000424845.1:n.219+364G>A
ENST00000515658.1:c.325-1012G>A
NM_000495.4:c.4822G>A	NP_000486.1:p.Glu1608Lys
NM_033380.2:c.4840G>A	NP_203699.1:p.Glu1614Lys
XM_005262070.2:c.4831G>A	XP_005262127.1:p.Glu1611Lys
XM_006724616.2:c.4840G>A	XP_006724679.1:p.Glu1614Lys
XM_011530849.1:c.4516G>A	XP_011529151.1:p.Glu1506Lys
XM_011530851.1:c.2413G>A	XP_011529153.1:p.Glu805Lys
XM_011530849.2:c.4855G>A	XP_011529151.2:p.Glu1619Lys
XM_017029259.2:c.4846G>A	XP_016884748.1:p.Glu1616Lys
XM_017029260.1:c.4837G>A	XP_016884749.1:p.Glu1613Lys
XM_017029263.2:c.3175G>A	XP_016884752.1:p.Glu1059Lys
NM_000495.5:c.4822G>A	NP_000486.1:p.Glu1608Lys
NM_033380.3:c.4840G>A MANE Select	NP_203699.1:p.Glu1614Lys