Canonical Allele Identifier: CA413854067

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930757G>T (hg19) ; chrX:g.108687527G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687527G>T , CM000685.2:g.108687527G>T	GRCh38
NC_000023.10:g.107930757G>T , CM000685.1:g.107930757G>T	GRCh37
NC_000023.9:g.107817413G>T	NCBI36
NG_011977.1:g.252604G>T
NG_011977.2:g.252604G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4361G>T MANE Select	ENSP00000331902.7:p.Gly1454Val
ENST00000361603.7:c.4343G>T	ENSP00000354505.2:p.Gly1448Val
ENST00000510690.2:n.855G>T
ENST00000328300.10:c.4361G>T	ENSP00000331902.6:p.Gly1454Val
ENST00000361603.6:c.4343G>T	ENSP00000354505.2:p.Gly1448Val
ENST00000515658.1:c.157G>T
NM_000495.4:c.4343G>T	NP_000486.1:p.Gly1448Val
NM_033380.2:c.4361G>T	NP_203699.1:p.Gly1454Val
XM_005262070.2:c.4352G>T	XP_005262127.1:p.Gly1451Val
XM_006724616.2:c.4361G>T	XP_006724679.1:p.Gly1454Val
XM_011530849.1:c.4037G>T	XP_011529151.1:p.Gly1346Val
XM_011530851.1:c.1934G>T	XP_011529153.1:p.Gly645Val
XM_011530849.2:c.4376G>T	XP_011529151.2:p.Gly1459Val
XM_017029259.2:c.4367G>T	XP_016884748.1:p.Gly1456Val
XM_017029260.1:c.4358G>T	XP_016884749.1:p.Gly1453Val
XM_017029263.2:c.2696G>T	XP_016884752.1:p.Gly899Val
NM_000495.5:c.4343G>T	NP_000486.1:p.Gly1448Val
NM_033380.3:c.4361G>T MANE Select	NP_203699.1:p.Gly1454Val