Canonical Allele Identifier: CA413853461

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107867524A>T (hg19) ; chrX:g.108624294A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108624294A>T , CM000685.2:g.108624294A>T	GRCh38
NC_000023.10:g.107867524A>T , CM000685.1:g.107867524A>T	GRCh37
NC_000023.9:g.107754180A>T	NCBI36
NG_011977.1:g.189371A>T
NG_011977.2:g.189371A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2976A>T MANE Select	ENSP00000331902.7:p.Gln992His
ENST00000361603.7:c.2976A>T	ENSP00000354505.2:p.Gln992His
ENST00000328300.10:c.2976A>T	ENSP00000331902.6:p.Gln992His
ENST00000361603.6:c.2976A>T	ENSP00000354505.2:p.Gln992His
ENST00000483338.1:n.2432A>T
ENST00000505728.1:c.209A>T
NM_000495.4:c.2976A>T	NP_000486.1:p.Gln992His
NM_033380.2:c.2976A>T	NP_203699.1:p.Gln992His
XM_005262070.2:c.2976A>T	XP_005262127.1:p.Gln992His
XM_005262072.3:c.2976A>T	XP_005262129.1:p.Gln992His
XM_006724616.2:c.2976A>T	XP_006724679.1:p.Gln992His
XM_011530849.1:c.2652A>T	XP_011529151.1:p.Gln884His
XM_011530850.1:c.2976A>T	XP_011529152.1:p.Gln992His
XM_011530851.1:c.549A>T	XP_011529153.1:p.Gln183His
XM_011530849.2:c.2991A>T	XP_011529151.2:p.Gln997His
XM_017029259.2:c.2991A>T	XP_016884748.1:p.Gln997His
XM_017029260.1:c.2991A>T	XP_016884749.1:p.Gln997His
XM_017029261.1:c.2991A>T	XP_016884750.1:p.Gln997His
XM_017029262.2:c.2991A>T	XP_016884751.1:p.Gln997His
XM_017029263.2:c.1311A>T	XP_016884752.1:p.Gln437His
NM_000495.5:c.2976A>T	NP_000486.1:p.Gln992His
NM_033380.3:c.2976A>T MANE Select	NP_203699.1:p.Gln992His