Canonical Allele Identifier: CA414132818

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938582T>C (hg19) ; chrX:g.108695352T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695352T>C , CM000685.2:g.108695352T>C	GRCh38
NC_000023.10:g.107938582T>C , CM000685.1:g.107938582T>C	GRCh37
NC_000023.9:g.107825238T>C	NCBI36
NG_011977.1:g.260429T>C
NG_011977.2:g.260429T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4907T>C MANE Select	ENSP00000331902.7:p.Ile1636Thr
ENST00000361603.7:c.4889T>C	ENSP00000354505.2:p.Ile1630Thr
ENST00000510690.2:n.1401T>C
ENST00000644079.1:n.1738T>C
ENST00000328300.10:c.4907T>C	ENSP00000331902.6:p.Ile1636Thr
ENST00000361603.6:c.4889T>C	ENSP00000354505.2:p.Ile1630Thr
ENST00000504541.1:c.219+431T>C	ENSP00000424845.1:n.219+431T>C
ENST00000515658.1:c.325-945T>C
NM_000495.4:c.4889T>C	NP_000486.1:p.Ile1630Thr
NM_033380.2:c.4907T>C	NP_203699.1:p.Ile1636Thr
XM_005262070.2:c.4898T>C	XP_005262127.1:p.Ile1633Thr
XM_006724616.2:c.4907T>C	XP_006724679.1:p.Ile1636Thr
XM_011530849.1:c.4583T>C	XP_011529151.1:p.Ile1528Thr
XM_011530851.1:c.2480T>C	XP_011529153.1:p.Ile827Thr
XM_011530849.2:c.4922T>C	XP_011529151.2:p.Ile1641Thr
XM_017029259.2:c.4913T>C	XP_016884748.1:p.Ile1638Thr
XM_017029260.1:c.4904T>C	XP_016884749.1:p.Ile1635Thr
XM_017029263.2:c.3242T>C	XP_016884752.1:p.Ile1081Thr
NM_000495.5:c.4889T>C	NP_000486.1:p.Ile1630Thr
NM_033380.3:c.4907T>C MANE Select	NP_203699.1:p.Ile1636Thr