Canonical Allele Identifier: CA517924059

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107929283T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686053T>C , CM000685.2:g.108686053T>C	GRCh38
NC_000023.10:g.107929283T>C , CM000685.1:g.107929283T>C	GRCh37
NC_000023.9:g.107815939T>C	NCBI36
NG_011977.1:g.251130T>C
NG_011977.2:g.251130T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4239T>C MANE Select	ENSP00000331902.7:p.Asp1413=
ENST00000361603.7:c.4221T>C	ENSP00000354505.2:p.Asp1407=
ENST00000510690.2:n.733T>C
ENST00000328300.10:c.4239T>C	ENSP00000331902.6:p.Asp1413=
ENST00000361603.6:c.4221T>C	ENSP00000354505.2:p.Asp1407=
ENST00000489230.1:n.642T>C
ENST00000515658.1:c.35T>C
NM_000495.4:c.4221T>C	NP_000486.1:p.Asp1407=
NM_033380.2:c.4239T>C	NP_203699.1:p.Asp1413=
XM_005262070.2:c.4230T>C	XP_005262127.1:p.Asp1410=
XM_006724616.2:c.4239T>C	XP_006724679.1:p.Asp1413=
XM_011530849.1:c.3915T>C	XP_011529151.1:p.Asp1305=
XM_011530851.1:c.1812T>C	XP_011529153.1:p.Asp604=
XM_011530849.2:c.4254T>C	XP_011529151.2:p.Asp1418=
XM_017029259.2:c.4245T>C	XP_016884748.1:p.Asp1415=
XM_017029260.1:c.4236T>C	XP_016884749.1:p.Asp1412=
XM_017029263.2:c.2574T>C	XP_016884752.1:p.Asp858=
NM_000495.5:c.4221T>C	NP_000486.1:p.Asp1407=
NM_033380.3:c.4239T>C MANE Select	NP_203699.1:p.Asp1413=