Canonical Allele Identifier: CA517926063

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938511G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695281G>T , CM000685.2:g.108695281G>T	GRCh38
NC_000023.10:g.107938511G>T , CM000685.1:g.107938511G>T	GRCh37
NC_000023.9:g.107825167G>T	NCBI36
NG_011977.1:g.260358G>T
NG_011977.2:g.260358G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4836G>T MANE Select	ENSP00000331902.7:p.Gly1612=
ENST00000361603.7:c.4818G>T	ENSP00000354505.2:p.Gly1606=
ENST00000510690.2:n.1330G>T
ENST00000644079.1:n.1667G>T
ENST00000328300.10:c.4836G>T	ENSP00000331902.6:p.Gly1612=
ENST00000361603.6:c.4818G>T	ENSP00000354505.2:p.Gly1606=
ENST00000504541.1:c.219+360G>T	ENSP00000424845.1:n.219+360G>T
ENST00000515658.1:c.325-1016G>T
NM_000495.4:c.4818G>T	NP_000486.1:p.Gly1606=
NM_033380.2:c.4836G>T	NP_203699.1:p.Gly1612=
XM_005262070.2:c.4827G>T	XP_005262127.1:p.Gly1609=
XM_006724616.2:c.4836G>T	XP_006724679.1:p.Gly1612=
XM_011530849.1:c.4512G>T	XP_011529151.1:p.Gly1504=
XM_011530851.1:c.2409G>T	XP_011529153.1:p.Gly803=
XM_011530849.2:c.4851G>T	XP_011529151.2:p.Gly1617=
XM_017029259.2:c.4842G>T	XP_016884748.1:p.Gly1614=
XM_017029260.1:c.4833G>T	XP_016884749.1:p.Gly1611=
XM_017029263.2:c.3171G>T	XP_016884752.1:p.Gly1057=
NM_000495.5:c.4818G>T	NP_000486.1:p.Gly1606=
NM_033380.3:c.4836G>T MANE Select	NP_203699.1:p.Gly1612=