Canonical Allele Identifier: CA414132440

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938066T>C (hg19) ; chrX:g.108694836T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694836T>C , CM000685.2:g.108694836T>C	GRCh38
NC_000023.10:g.107938066T>C , CM000685.1:g.107938066T>C	GRCh37
NC_000023.9:g.107824722T>C	NCBI36
NG_011977.1:g.259913T>C
NG_011977.2:g.259913T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4736T>C MANE Select	ENSP00000331902.7:p.Val1579Ala
ENST00000361603.7:c.4718T>C	ENSP00000354505.2:p.Val1573Ala
ENST00000510690.2:n.1230T>C
ENST00000644079.1:n.1222T>C
ENST00000328300.10:c.4736T>C	ENSP00000331902.6:p.Val1579Ala
ENST00000361603.6:c.4718T>C	ENSP00000354505.2:p.Val1573Ala
ENST00000504541.1:c.134T>C	ENSP00000424845.1:p.Val45Ala
ENST00000515658.1:c.325-1461T>C
NM_000495.4:c.4718T>C	NP_000486.1:p.Val1573Ala
NM_033380.2:c.4736T>C	NP_203699.1:p.Val1579Ala
XM_005262070.2:c.4727T>C	XP_005262127.1:p.Val1576Ala
XM_006724616.2:c.4736T>C	XP_006724679.1:p.Val1579Ala
XM_011530849.1:c.4412T>C	XP_011529151.1:p.Val1471Ala
XM_011530851.1:c.2309T>C	XP_011529153.1:p.Val770Ala
XM_011530849.2:c.4751T>C	XP_011529151.2:p.Val1584Ala
XM_017029259.2:c.4742T>C	XP_016884748.1:p.Val1581Ala
XM_017029260.1:c.4733T>C	XP_016884749.1:p.Val1578Ala
XM_017029263.2:c.3071T>C	XP_016884752.1:p.Val1024Ala
NM_000495.5:c.4718T>C	NP_000486.1:p.Val1573Ala
NM_033380.3:c.4736T>C MANE Select	NP_203699.1:p.Val1579Ala