Canonical Allele Identifier: CA414132503

Gene: COL4A5

Linked Data

• dbSNP Id: rs1480485503
• MyVariant Identifiers: chrX:g.107938095A>C (hg19) ; chrX:g.108694865A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694865A>C , CM000685.2:g.108694865A>C	GRCh38
NC_000023.10:g.107938095A>C , CM000685.1:g.107938095A>C	GRCh37
NC_000023.9:g.107824751A>C	NCBI36
NG_011977.1:g.259942A>C
NG_011977.2:g.259942A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4765A>C MANE Select	ENSP00000331902.7:p.Ile1589Leu
ENST00000361603.7:c.4747A>C	ENSP00000354505.2:p.Ile1583Leu
ENST00000510690.2:n.1259A>C
ENST00000644079.1:n.1251A>C
ENST00000328300.10:c.4765A>C	ENSP00000331902.6:p.Ile1589Leu
ENST00000361603.6:c.4747A>C	ENSP00000354505.2:p.Ile1583Leu
ENST00000504541.1:c.163A>C	ENSP00000424845.1:p.Ile55Leu
ENST00000515658.1:c.325-1432A>C
NM_000495.4:c.4747A>C	NP_000486.1:p.Ile1583Leu
NM_033380.2:c.4765A>C	NP_203699.1:p.Ile1589Leu
XM_005262070.2:c.4756A>C	XP_005262127.1:p.Ile1586Leu
XM_006724616.2:c.4765A>C	XP_006724679.1:p.Ile1589Leu
XM_011530849.1:c.4441A>C	XP_011529151.1:p.Ile1481Leu
XM_011530851.1:c.2338A>C	XP_011529153.1:p.Ile780Leu
XM_011530849.2:c.4780A>C	XP_011529151.2:p.Ile1594Leu
XM_017029259.2:c.4771A>C	XP_016884748.1:p.Ile1591Leu
XM_017029260.1:c.4762A>C	XP_016884749.1:p.Ile1588Leu
XM_017029263.2:c.3100A>C	XP_016884752.1:p.Ile1034Leu
NM_000495.5:c.4747A>C	NP_000486.1:p.Ile1583Leu
NM_033380.3:c.4765A>C MANE Select	NP_203699.1:p.Ile1589Leu