Canonical Allele Identifier: CA413853727

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107929329A>G (hg19) ; chrX:g.108686099A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686099A>G , CM000685.2:g.108686099A>G	GRCh38
NC_000023.10:g.107929329A>G , CM000685.1:g.107929329A>G	GRCh37
NC_000023.9:g.107815985A>G	NCBI36
NG_011977.1:g.251176A>G
NG_011977.2:g.251176A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4285A>G MANE Select	ENSP00000331902.7:p.Lys1429Glu
ENST00000361603.7:c.4267A>G	ENSP00000354505.2:p.Lys1423Glu
ENST00000510690.2:n.779A>G
ENST00000328300.10:c.4285A>G	ENSP00000331902.6:p.Lys1429Glu
ENST00000361603.6:c.4267A>G	ENSP00000354505.2:p.Lys1423Glu
ENST00000489230.1:n.688A>G
ENST00000515658.1:c.81A>G
NM_000495.4:c.4267A>G	NP_000486.1:p.Lys1423Glu
NM_033380.2:c.4285A>G	NP_203699.1:p.Lys1429Glu
XM_005262070.2:c.4276A>G	XP_005262127.1:p.Lys1426Glu
XM_006724616.2:c.4285A>G	XP_006724679.1:p.Lys1429Glu
XM_011530849.1:c.3961A>G	XP_011529151.1:p.Lys1321Glu
XM_011530851.1:c.1858A>G	XP_011529153.1:p.Lys620Glu
XM_011530849.2:c.4300A>G	XP_011529151.2:p.Lys1434Glu
XM_017029259.2:c.4291A>G	XP_016884748.1:p.Lys1431Glu
XM_017029260.1:c.4282A>G	XP_016884749.1:p.Lys1428Glu
XM_017029263.2:c.2620A>G	XP_016884752.1:p.Lys874Glu
NM_000495.5:c.4267A>G	NP_000486.1:p.Lys1423Glu
NM_033380.3:c.4285A>G MANE Select	NP_203699.1:p.Lys1429Glu