Canonical Allele Identifier: CA413853982

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930736C>A (hg19) ; chrX:g.108687506C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687506C>A , CM000685.2:g.108687506C>A	GRCh38
NC_000023.10:g.107930736C>A , CM000685.1:g.107930736C>A	GRCh37
NC_000023.9:g.107817392C>A	NCBI36
NG_011977.1:g.252583C>A
NG_011977.2:g.252583C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4340C>A MANE Select	ENSP00000331902.7:p.Pro1447His
ENST00000361603.7:c.4322C>A	ENSP00000354505.2:p.Pro1441His
ENST00000510690.2:n.834C>A
ENST00000328300.10:c.4340C>A	ENSP00000331902.6:p.Pro1447His
ENST00000361603.6:c.4322C>A	ENSP00000354505.2:p.Pro1441His
ENST00000515658.1:c.136C>A
NM_000495.4:c.4322C>A	NP_000486.1:p.Pro1441His
NM_033380.2:c.4340C>A	NP_203699.1:p.Pro1447His
XM_005262070.2:c.4331C>A	XP_005262127.1:p.Pro1444His
XM_006724616.2:c.4340C>A	XP_006724679.1:p.Pro1447His
XM_011530849.1:c.4016C>A	XP_011529151.1:p.Pro1339His
XM_011530851.1:c.1913C>A	XP_011529153.1:p.Pro638His
XM_011530849.2:c.4355C>A	XP_011529151.2:p.Pro1452His
XM_017029259.2:c.4346C>A	XP_016884748.1:p.Pro1449His
XM_017029260.1:c.4337C>A	XP_016884749.1:p.Pro1446His
XM_017029263.2:c.2675C>A	XP_016884752.1:p.Pro892His
NM_000495.5:c.4322C>A	NP_000486.1:p.Pro1441His
NM_033380.3:c.4340C>A MANE Select	NP_203699.1:p.Pro1447His