Canonical Allele Identifier: CA517923849

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107925072T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681842T>C , CM000685.2:g.108681842T>C	GRCh38
NC_000023.10:g.107925072T>C , CM000685.1:g.107925072T>C	GRCh37
NC_000023.9:g.107811728T>C	NCBI36
NG_011977.1:g.246919T>C
NG_011977.2:g.246919T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4170T>C MANE Select	ENSP00000331902.7:p.Pro1390=
ENST00000361603.7:c.4152T>C	ENSP00000354505.2:p.Pro1384=
ENST00000510690.2:n.664T>C
ENST00000328300.10:c.4170T>C	ENSP00000331902.6:p.Pro1390=
ENST00000361603.6:c.4152T>C	ENSP00000354505.2:p.Pro1384=
ENST00000489230.1:n.573T>C
NM_000495.4:c.4152T>C	NP_000486.1:p.Pro1384=
NM_033380.2:c.4170T>C	NP_203699.1:p.Pro1390=
XM_005262070.2:c.4161T>C	XP_005262127.1:p.Pro1387=
XM_006724616.2:c.4170T>C	XP_006724679.1:p.Pro1390=
XM_011530849.1:c.3846T>C	XP_011529151.1:p.Pro1282=
XM_011530851.1:c.1743T>C	XP_011529153.1:p.Pro581=
XM_011530849.2:c.4185T>C	XP_011529151.2:p.Pro1395=
XM_017029259.2:c.4176T>C	XP_016884748.1:p.Pro1392=
XM_017029260.1:c.4167T>C	XP_016884749.1:p.Pro1389=
XM_017029263.2:c.2505T>C	XP_016884752.1:p.Pro835=
NM_000495.5:c.4152T>C	NP_000486.1:p.Pro1384=
NM_033380.3:c.4170T>C MANE Select	NP_203699.1:p.Pro1390=