Canonical Allele Identifier: CA517926131

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938604C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695374C>T , CM000685.2:g.108695374C>T	GRCh38
NC_000023.10:g.107938604C>T , CM000685.1:g.107938604C>T	GRCh37
NC_000023.9:g.107825260C>T	NCBI36
NG_011977.1:g.260451C>T
NG_011977.2:g.260451C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4929C>T MANE Select	ENSP00000331902.7:p.Thr1643=
ENST00000361603.7:c.4911C>T	ENSP00000354505.2:p.Thr1637=
ENST00000510690.2:n.1423C>T
ENST00000644079.1:n.1760C>T
ENST00000328300.10:c.4929C>T	ENSP00000331902.6:p.Thr1643=
ENST00000361603.6:c.4911C>T	ENSP00000354505.2:p.Thr1637=
ENST00000504541.1:c.219+453C>T	ENSP00000424845.1:n.219+453C>T
ENST00000515658.1:c.325-923C>T
NM_000495.4:c.4911C>T	NP_000486.1:p.Thr1637=
NM_033380.2:c.4929C>T	NP_203699.1:p.Thr1643=
XM_005262070.2:c.4920C>T	XP_005262127.1:p.Thr1640=
XM_006724616.2:c.4929C>T	XP_006724679.1:p.Thr1643=
XM_011530849.1:c.4605C>T	XP_011529151.1:p.Thr1535=
XM_011530851.1:c.2502C>T	XP_011529153.1:p.Thr834=
XM_011530849.2:c.4944C>T	XP_011529151.2:p.Thr1648=
XM_017029259.2:c.4935C>T	XP_016884748.1:p.Thr1645=
XM_017029260.1:c.4926C>T	XP_016884749.1:p.Thr1642=
XM_017029263.2:c.3264C>T	XP_016884752.1:p.Thr1088=
NM_000495.5:c.4911C>T	NP_000486.1:p.Thr1637=
NM_033380.3:c.4929C>T MANE Select	NP_203699.1:p.Thr1643=