Canonical Allele Identifier: CA413853579

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107929303C>A (hg19) ; chrX:g.108686073C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686073C>A , CM000685.2:g.108686073C>A	GRCh38
NC_000023.10:g.107929303C>A , CM000685.1:g.107929303C>A	GRCh37
NC_000023.9:g.107815959C>A	NCBI36
NG_011977.1:g.251150C>A
NG_011977.2:g.251150C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4259C>A MANE Select	ENSP00000331902.7:p.Pro1420His
ENST00000361603.7:c.4241C>A	ENSP00000354505.2:p.Pro1414His
ENST00000510690.2:n.753C>A
ENST00000328300.10:c.4259C>A	ENSP00000331902.6:p.Pro1420His
ENST00000361603.6:c.4241C>A	ENSP00000354505.2:p.Pro1414His
ENST00000489230.1:n.662C>A
ENST00000515658.1:c.55C>A
NM_000495.4:c.4241C>A	NP_000486.1:p.Pro1414His
NM_033380.2:c.4259C>A	NP_203699.1:p.Pro1420His
XM_005262070.2:c.4250C>A	XP_005262127.1:p.Pro1417His
XM_006724616.2:c.4259C>A	XP_006724679.1:p.Pro1420His
XM_011530849.1:c.3935C>A	XP_011529151.1:p.Pro1312His
XM_011530851.1:c.1832C>A	XP_011529153.1:p.Pro611His
XM_011530849.2:c.4274C>A	XP_011529151.2:p.Pro1425His
XM_017029259.2:c.4265C>A	XP_016884748.1:p.Pro1422His
XM_017029260.1:c.4256C>A	XP_016884749.1:p.Pro1419His
XM_017029263.2:c.2594C>A	XP_016884752.1:p.Pro865His
NM_000495.5:c.4241C>A	NP_000486.1:p.Pro1414His
NM_033380.3:c.4259C>A MANE Select	NP_203699.1:p.Pro1420His