Canonical Allele Identifier: CA414132649

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938501C>T (hg19) ; chrX:g.108695271C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695271C>T , CM000685.2:g.108695271C>T	GRCh38
NC_000023.10:g.107938501C>T , CM000685.1:g.107938501C>T	GRCh37
NC_000023.9:g.107825157C>T	NCBI36
NG_011977.1:g.260348C>T
NG_011977.2:g.260348C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4826C>T MANE Select	ENSP00000331902.7:p.Thr1609Ile
ENST00000361603.7:c.4808C>T	ENSP00000354505.2:p.Thr1603Ile
ENST00000510690.2:n.1320C>T
ENST00000644079.1:n.1657C>T
ENST00000328300.10:c.4826C>T	ENSP00000331902.6:p.Thr1609Ile
ENST00000361603.6:c.4808C>T	ENSP00000354505.2:p.Thr1603Ile
ENST00000504541.1:c.219+350C>T	ENSP00000424845.1:n.219+350C>T
ENST00000515658.1:c.325-1026C>T
NM_000495.4:c.4808C>T	NP_000486.1:p.Thr1603Ile
NM_033380.2:c.4826C>T	NP_203699.1:p.Thr1609Ile
XM_005262070.2:c.4817C>T	XP_005262127.1:p.Thr1606Ile
XM_006724616.2:c.4826C>T	XP_006724679.1:p.Thr1609Ile
XM_011530849.1:c.4502C>T	XP_011529151.1:p.Thr1501Ile
XM_011530851.1:c.2399C>T	XP_011529153.1:p.Thr800Ile
XM_011530849.2:c.4841C>T	XP_011529151.2:p.Thr1614Ile
XM_017029259.2:c.4832C>T	XP_016884748.1:p.Thr1611Ile
XM_017029260.1:c.4823C>T	XP_016884749.1:p.Thr1608Ile
XM_017029263.2:c.3161C>T	XP_016884752.1:p.Thr1054Ile
NM_000495.5:c.4808C>T	NP_000486.1:p.Thr1603Ile
NM_033380.3:c.4826C>T MANE Select	NP_203699.1:p.Thr1609Ile