Canonical Allele Identifier: CA414132416

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938052A>C (hg19) ; chrX:g.108694822A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694822A>C , CM000685.2:g.108694822A>C	GRCh38
NC_000023.10:g.107938052A>C , CM000685.1:g.107938052A>C	GRCh37
NC_000023.9:g.107824708A>C	NCBI36
NG_011977.1:g.259899A>C
NG_011977.2:g.259899A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4722A>C MANE Select	ENSP00000331902.7:p.Glu1574Asp
ENST00000361603.7:c.4704A>C	ENSP00000354505.2:p.Glu1568Asp
ENST00000510690.2:n.1216A>C
ENST00000644079.1:n.1208A>C
ENST00000328300.10:c.4722A>C	ENSP00000331902.6:p.Glu1574Asp
ENST00000361603.6:c.4704A>C	ENSP00000354505.2:p.Glu1568Asp
ENST00000504541.1:c.120A>C	ENSP00000424845.1:p.Glu40Asp
ENST00000515658.1:c.325-1475A>C
NM_000495.4:c.4704A>C	NP_000486.1:p.Glu1568Asp
NM_033380.2:c.4722A>C	NP_203699.1:p.Glu1574Asp
XM_005262070.2:c.4713A>C	XP_005262127.1:p.Glu1571Asp
XM_006724616.2:c.4722A>C	XP_006724679.1:p.Glu1574Asp
XM_011530849.1:c.4398A>C	XP_011529151.1:p.Glu1466Asp
XM_011530851.1:c.2295A>C	XP_011529153.1:p.Glu765Asp
XM_011530849.2:c.4737A>C	XP_011529151.2:p.Glu1579Asp
XM_017029259.2:c.4728A>C	XP_016884748.1:p.Glu1576Asp
XM_017029260.1:c.4719A>C	XP_016884749.1:p.Glu1573Asp
XM_017029263.2:c.3057A>C	XP_016884752.1:p.Glu1019Asp
NM_000495.5:c.4704A>C	NP_000486.1:p.Glu1568Asp
NM_033380.3:c.4722A>C MANE Select	NP_203699.1:p.Glu1574Asp