Canonical Allele Identifier: CA413852035

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107925029T>A (hg19) ; chrX:g.108681799T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681799T>A , CM000685.2:g.108681799T>A	GRCh38
NC_000023.10:g.107925029T>A , CM000685.1:g.107925029T>A	GRCh37
NC_000023.9:g.107811685T>A	NCBI36
NG_011977.1:g.246876T>A
NG_011977.2:g.246876T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4127T>A MANE Select	ENSP00000331902.7:p.Ile1376Lys
ENST00000361603.7:c.4109T>A	ENSP00000354505.2:p.Ile1370Lys
ENST00000510690.2:n.621T>A
ENST00000328300.10:c.4127T>A	ENSP00000331902.6:p.Ile1376Lys
ENST00000361603.6:c.4109T>A	ENSP00000354505.2:p.Ile1370Lys
ENST00000489230.1:n.530T>A
NM_000495.4:c.4109T>A	NP_000486.1:p.Ile1370Lys
NM_033380.2:c.4127T>A	NP_203699.1:p.Ile1376Lys
XM_005262070.2:c.4118T>A	XP_005262127.1:p.Ile1373Lys
XM_006724616.2:c.4127T>A	XP_006724679.1:p.Ile1376Lys
XM_011530849.1:c.3803T>A	XP_011529151.1:p.Ile1268Lys
XM_011530851.1:c.1700T>A	XP_011529153.1:p.Ile567Lys
XM_011530849.2:c.4142T>A	XP_011529151.2:p.Ile1381Lys
XM_017029259.2:c.4133T>A	XP_016884748.1:p.Ile1378Lys
XM_017029260.1:c.4124T>A	XP_016884749.1:p.Ile1375Lys
XM_017029263.2:c.2462T>A	XP_016884752.1:p.Ile821Lys
NM_000495.5:c.4109T>A	NP_000486.1:p.Ile1370Lys
NM_033380.3:c.4127T>A MANE Select	NP_203699.1:p.Ile1376Lys