Canonical Allele Identifier: CA413854384

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930834C>T (hg19) ; chrX:g.108687604C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687604C>T , CM000685.2:g.108687604C>T	GRCh38
NC_000023.10:g.107930834C>T , CM000685.1:g.107930834C>T	GRCh37
NC_000023.9:g.107817490C>T	NCBI36
NG_011977.1:g.252681C>T
NG_011977.2:g.252681C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4438C>T MANE Select	ENSP00000331902.7:p.Pro1480Ser
ENST00000361603.7:c.4420C>T	ENSP00000354505.2:p.Pro1474Ser
ENST00000510690.2:n.932C>T
ENST00000328300.10:c.4438C>T	ENSP00000331902.6:p.Pro1480Ser
ENST00000361603.6:c.4420C>T	ENSP00000354505.2:p.Pro1474Ser
ENST00000515658.1:c.234C>T
NM_000495.4:c.4420C>T	NP_000486.1:p.Pro1474Ser
NM_033380.2:c.4438C>T	NP_203699.1:p.Pro1480Ser
XM_005262070.2:c.4429C>T	XP_005262127.1:p.Pro1477Ser
XM_006724616.2:c.4438C>T	XP_006724679.1:p.Pro1480Ser
XM_011530849.1:c.4114C>T	XP_011529151.1:p.Pro1372Ser
XM_011530851.1:c.2011C>T	XP_011529153.1:p.Pro671Ser
XM_011530849.2:c.4453C>T	XP_011529151.2:p.Pro1485Ser
XM_017029259.2:c.4444C>T	XP_016884748.1:p.Pro1482Ser
XM_017029260.1:c.4435C>T	XP_016884749.1:p.Pro1479Ser
XM_017029263.2:c.2773C>T	XP_016884752.1:p.Pro925Ser
NM_000495.5:c.4420C>T	NP_000486.1:p.Pro1474Ser
NM_033380.3:c.4438C>T MANE Select	NP_203699.1:p.Pro1480Ser