Canonical Allele Identifier: CA413854630

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107868982C>G (hg19) ; chrX:g.108625752C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108625752C>G , CM000685.2:g.108625752C>G	GRCh38
NC_000023.10:g.107868982C>G , CM000685.1:g.107868982C>G	GRCh37
NC_000023.9:g.107755638C>G	NCBI36
NG_011977.1:g.190829C>G
NG_011977.2:g.190829C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3064C>G MANE Select	ENSP00000331902.7:p.Pro1022Ala
ENST00000361603.7:c.3064C>G	ENSP00000354505.2:p.Pro1022Ala
ENST00000328300.10:c.3064C>G	ENSP00000331902.6:p.Pro1022Ala
ENST00000361603.6:c.3064C>G	ENSP00000354505.2:p.Pro1022Ala
ENST00000483338.1:n.2520C>G
ENST00000505728.1:c.297C>G
NM_000495.4:c.3064C>G	NP_000486.1:p.Pro1022Ala
NM_033380.2:c.3064C>G	NP_203699.1:p.Pro1022Ala
XM_005262070.2:c.3064C>G	XP_005262127.1:p.Pro1022Ala
XM_005262072.3:c.3064C>G	XP_005262129.1:p.Pro1022Ala
XM_006724616.2:c.3064C>G	XP_006724679.1:p.Pro1022Ala
XM_011530849.1:c.2740C>G	XP_011529151.1:p.Pro914Ala
XM_011530850.1:c.3064C>G	XP_011529152.1:p.Pro1022Ala
XM_011530851.1:c.637C>G	XP_011529153.1:p.Pro213Ala
XM_011530849.2:c.3079C>G	XP_011529151.2:p.Pro1027Ala
XM_017029259.2:c.3079C>G	XP_016884748.1:p.Pro1027Ala
XM_017029260.1:c.3079C>G	XP_016884749.1:p.Pro1027Ala
XM_017029261.1:c.3079C>G	XP_016884750.1:p.Pro1027Ala
XM_017029262.2:c.3079C>G	XP_016884751.1:p.Pro1027Ala
XM_017029263.2:c.1399C>G	XP_016884752.1:p.Pro467Ala
NM_000495.5:c.3064C>G	NP_000486.1:p.Pro1022Ala
NM_033380.3:c.3064C>G MANE Select	NP_203699.1:p.Pro1022Ala