Canonical Allele Identifier: CA414132781

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938564T>C (hg19) ; chrX:g.108695334T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695334T>C , CM000685.2:g.108695334T>C	GRCh38
NC_000023.10:g.107938564T>C , CM000685.1:g.107938564T>C	GRCh37
NC_000023.9:g.107825220T>C	NCBI36
NG_011977.1:g.260411T>C
NG_011977.2:g.260411T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4889T>C MANE Select	ENSP00000331902.7:p.Phe1630Ser
ENST00000361603.7:c.4871T>C	ENSP00000354505.2:p.Phe1624Ser
ENST00000510690.2:n.1383T>C
ENST00000644079.1:n.1720T>C
ENST00000328300.10:c.4889T>C	ENSP00000331902.6:p.Phe1630Ser
ENST00000361603.6:c.4871T>C	ENSP00000354505.2:p.Phe1624Ser
ENST00000504541.1:c.219+413T>C	ENSP00000424845.1:n.219+413T>C
ENST00000515658.1:c.325-963T>C
NM_000495.4:c.4871T>C	NP_000486.1:p.Phe1624Ser
NM_033380.2:c.4889T>C	NP_203699.1:p.Phe1630Ser
XM_005262070.2:c.4880T>C	XP_005262127.1:p.Phe1627Ser
XM_006724616.2:c.4889T>C	XP_006724679.1:p.Phe1630Ser
XM_011530849.1:c.4565T>C	XP_011529151.1:p.Phe1522Ser
XM_011530851.1:c.2462T>C	XP_011529153.1:p.Phe821Ser
XM_011530849.2:c.4904T>C	XP_011529151.2:p.Phe1635Ser
XM_017029259.2:c.4895T>C	XP_016884748.1:p.Phe1632Ser
XM_017029260.1:c.4886T>C	XP_016884749.1:p.Phe1629Ser
XM_017029263.2:c.3224T>C	XP_016884752.1:p.Phe1075Ser
NM_000495.5:c.4871T>C	NP_000486.1:p.Phe1624Ser
NM_033380.3:c.4889T>C MANE Select	NP_203699.1:p.Phe1630Ser