Canonical Allele Identifier: CA413854056

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930755A>T (hg19) ; chrX:g.108687525A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687525A>T , CM000685.2:g.108687525A>T	GRCh38
NC_000023.10:g.107930755A>T , CM000685.1:g.107930755A>T	GRCh37
NC_000023.9:g.107817411A>T	NCBI36
NG_011977.1:g.252602A>T
NG_011977.2:g.252602A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4359A>T MANE Select	ENSP00000331902.7:p.Gln1453His
ENST00000361603.7:c.4341A>T	ENSP00000354505.2:p.Gln1447His
ENST00000510690.2:n.853A>T
ENST00000328300.10:c.4359A>T	ENSP00000331902.6:p.Gln1453His
ENST00000361603.6:c.4341A>T	ENSP00000354505.2:p.Gln1447His
ENST00000515658.1:c.155A>T
NM_000495.4:c.4341A>T	NP_000486.1:p.Gln1447His
NM_033380.2:c.4359A>T	NP_203699.1:p.Gln1453His
XM_005262070.2:c.4350A>T	XP_005262127.1:p.Gln1450His
XM_006724616.2:c.4359A>T	XP_006724679.1:p.Gln1453His
XM_011530849.1:c.4035A>T	XP_011529151.1:p.Gln1345His
XM_011530851.1:c.1932A>T	XP_011529153.1:p.Gln644His
XM_011530849.2:c.4374A>T	XP_011529151.2:p.Gln1458His
XM_017029259.2:c.4365A>T	XP_016884748.1:p.Gln1455His
XM_017029260.1:c.4356A>T	XP_016884749.1:p.Gln1452His
XM_017029263.2:c.2694A>T	XP_016884752.1:p.Gln898His
NM_000495.5:c.4341A>T	NP_000486.1:p.Gln1447His
NM_033380.3:c.4359A>T MANE Select	NP_203699.1:p.Gln1453His