Canonical Allele Identifier: CA413854153

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930783T>G (hg19) ; chrX:g.108687553T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687553T>G , CM000685.2:g.108687553T>G	GRCh38
NC_000023.10:g.107930783T>G , CM000685.1:g.107930783T>G	GRCh37
NC_000023.9:g.107817439T>G	NCBI36
NG_011977.1:g.252630T>G
NG_011977.2:g.252630T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4387T>G MANE Select	ENSP00000331902.7:p.Ser1463Ala
ENST00000361603.7:c.4369T>G	ENSP00000354505.2:p.Ser1457Ala
ENST00000510690.2:n.881T>G
ENST00000328300.10:c.4387T>G	ENSP00000331902.6:p.Ser1463Ala
ENST00000361603.6:c.4369T>G	ENSP00000354505.2:p.Ser1457Ala
ENST00000515658.1:c.183T>G
NM_000495.4:c.4369T>G	NP_000486.1:p.Ser1457Ala
NM_033380.2:c.4387T>G	NP_203699.1:p.Ser1463Ala
XM_005262070.2:c.4378T>G	XP_005262127.1:p.Ser1460Ala
XM_006724616.2:c.4387T>G	XP_006724679.1:p.Ser1463Ala
XM_011530849.1:c.4063T>G	XP_011529151.1:p.Ser1355Ala
XM_011530851.1:c.1960T>G	XP_011529153.1:p.Ser654Ala
XM_011530849.2:c.4402T>G	XP_011529151.2:p.Ser1468Ala
XM_017029259.2:c.4393T>G	XP_016884748.1:p.Ser1465Ala
XM_017029260.1:c.4384T>G	XP_016884749.1:p.Ser1462Ala
XM_017029263.2:c.2722T>G	XP_016884752.1:p.Ser908Ala
NM_000495.5:c.4369T>G	NP_000486.1:p.Ser1457Ala
NM_033380.3:c.4387T>G MANE Select	NP_203699.1:p.Ser1463Ala