Canonical Allele Identifier: CA413854333

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930825A>G (hg19) ; chrX:g.108687595A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687595A>G , CM000685.2:g.108687595A>G	GRCh38
NC_000023.10:g.107930825A>G , CM000685.1:g.107930825A>G	GRCh37
NC_000023.9:g.107817481A>G	NCBI36
NG_011977.1:g.252672A>G
NG_011977.2:g.252672A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4429A>G MANE Select	ENSP00000331902.7:p.Thr1477Ala
ENST00000361603.7:c.4411A>G	ENSP00000354505.2:p.Thr1471Ala
ENST00000510690.2:n.923A>G
ENST00000328300.10:c.4429A>G	ENSP00000331902.6:p.Thr1477Ala
ENST00000361603.6:c.4411A>G	ENSP00000354505.2:p.Thr1471Ala
ENST00000515658.1:c.225A>G
NM_000495.4:c.4411A>G	NP_000486.1:p.Thr1471Ala
NM_033380.2:c.4429A>G	NP_203699.1:p.Thr1477Ala
XM_005262070.2:c.4420A>G	XP_005262127.1:p.Thr1474Ala
XM_006724616.2:c.4429A>G	XP_006724679.1:p.Thr1477Ala
XM_011530849.1:c.4105A>G	XP_011529151.1:p.Thr1369Ala
XM_011530851.1:c.2002A>G	XP_011529153.1:p.Thr668Ala
XM_011530849.2:c.4444A>G	XP_011529151.2:p.Thr1482Ala
XM_017029259.2:c.4435A>G	XP_016884748.1:p.Thr1479Ala
XM_017029260.1:c.4426A>G	XP_016884749.1:p.Thr1476Ala
XM_017029263.2:c.2764A>G	XP_016884752.1:p.Thr922Ala
NM_000495.5:c.4411A>G	NP_000486.1:p.Thr1471Ala
NM_033380.3:c.4429A>G MANE Select	NP_203699.1:p.Thr1477Ala