Canonical Allele Identifier: CA413851206

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107924171C>T (hg19) ; chrX:g.108680941C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680941C>T , CM000685.2:g.108680941C>T	GRCh38
NC_000023.10:g.107924171C>T , CM000685.1:g.107924171C>T	GRCh37
NC_000023.9:g.107810827C>T	NCBI36
NG_011977.1:g.246018C>T
NG_011977.2:g.246018C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4072C>T MANE Select	ENSP00000331902.7:p.Leu1358Phe
ENST00000361603.7:c.4054C>T	ENSP00000354505.2:p.Leu1352Phe
ENST00000510690.2:n.566C>T
ENST00000328300.10:c.4072C>T	ENSP00000331902.6:p.Leu1358Phe
ENST00000361603.6:c.4054C>T	ENSP00000354505.2:p.Leu1352Phe
ENST00000489230.1:n.475C>T
NM_000495.4:c.4054C>T	NP_000486.1:p.Leu1352Phe
NM_033380.2:c.4072C>T	NP_203699.1:p.Leu1358Phe
XM_005262070.2:c.4063C>T	XP_005262127.1:p.Leu1355Phe
XM_006724616.2:c.4072C>T	XP_006724679.1:p.Leu1358Phe
XM_011530849.1:c.3748C>T	XP_011529151.1:p.Leu1250Phe
XM_011530851.1:c.1645C>T	XP_011529153.1:p.Leu549Phe
XM_011530849.2:c.4087C>T	XP_011529151.2:p.Leu1363Phe
XM_017029259.2:c.4078C>T	XP_016884748.1:p.Leu1360Phe
XM_017029260.1:c.4069C>T	XP_016884749.1:p.Leu1357Phe
XM_017029263.2:c.2407C>T	XP_016884752.1:p.Leu803Phe
NM_000495.5:c.4054C>T	NP_000486.1:p.Leu1352Phe
NM_033380.3:c.4072C>T MANE Select	NP_203699.1:p.Leu1358Phe