Canonical Allele Identifier: CA414133077

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107939549A>G (hg19) ; chrX:g.108696319A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696319A>G , CM000685.2:g.108696319A>G	GRCh38
NC_000023.10:g.107939549A>G , CM000685.1:g.107939549A>G	GRCh37
NC_000023.9:g.107826205A>G	NCBI36
NG_011977.1:g.261396A>G
NG_011977.2:g.261396A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.5017A>G MANE Select	ENSP00000331902.7:p.Lys1673Glu
ENST00000361603.7:c.4999A>G	ENSP00000354505.2:p.Lys1667Glu
ENST00000510690.2:n.1511A>G
ENST00000644079.1:n.2705A>G
ENST00000328300.10:c.5017A>G	ENSP00000331902.6:p.Lys1673Glu
ENST00000361603.6:c.4999A>G	ENSP00000354505.2:p.Lys1667Glu
ENST00000504541.1:c.242A>G	ENSP00000424845.1:n.242A>G
ENST00000515658.1:c.347A>G
NM_000495.4:c.4999A>G	NP_000486.1:p.Lys1667Glu
NM_033380.2:c.5017A>G	NP_203699.1:p.Lys1673Glu
XM_005262070.2:c.5008A>G	XP_005262127.1:p.Lys1670Glu
XM_006724616.2:c.5017A>G	XP_006724679.1:p.Lys1673Glu
XM_011530849.1:c.4693A>G	XP_011529151.1:p.Lys1565Glu
XM_011530851.1:c.2590A>G	XP_011529153.1:p.Lys864Glu
XM_011530849.2:c.5032A>G	XP_011529151.2:p.Lys1678Glu
XM_017029259.2:c.5023A>G	XP_016884748.1:p.Lys1675Glu
XM_017029260.1:c.5014A>G	XP_016884749.1:p.Lys1672Glu
XM_017029263.2:c.3352A>G	XP_016884752.1:p.Lys1118Glu
NM_000495.5:c.4999A>G	NP_000486.1:p.Lys1667Glu
NM_033380.3:c.5017A>G MANE Select	NP_203699.1:p.Lys1673Glu