Canonical Allele Identifier: CA413851878

Gene: COL4A5

Linked Data

• dbSNP Id: rs1476839626
• gnomAD v2: X-107924995-C-A
• gnomAD v4: X-108681765-C-A
• MyVariant Identifiers: chrX:g.107924995C>A (hg19) ; chrX:g.108681765C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681765C>A , CM000685.2:g.108681765C>A	GRCh38
NC_000023.10:g.107924995C>A , CM000685.1:g.107924995C>A	GRCh37
NC_000023.9:g.107811651C>A	NCBI36
NG_011977.1:g.246842C>A
NG_011977.2:g.246842C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4093C>A MANE Select	ENSP00000331902.7:p.Pro1365Thr
ENST00000361603.7:c.4075C>A	ENSP00000354505.2:p.Pro1359Thr
ENST00000510690.2:n.587C>A
ENST00000328300.10:c.4093C>A	ENSP00000331902.6:p.Pro1365Thr
ENST00000361603.6:c.4075C>A	ENSP00000354505.2:p.Pro1359Thr
ENST00000489230.1:n.496C>A
NM_000495.4:c.4075C>A	NP_000486.1:p.Pro1359Thr
NM_033380.2:c.4093C>A	NP_203699.1:p.Pro1365Thr
XM_005262070.2:c.4084C>A	XP_005262127.1:p.Pro1362Thr
XM_006724616.2:c.4093C>A	XP_006724679.1:p.Pro1365Thr
XM_011530849.1:c.3769C>A	XP_011529151.1:p.Pro1257Thr
XM_011530851.1:c.1666C>A	XP_011529153.1:p.Pro556Thr
XM_011530849.2:c.4108C>A	XP_011529151.2:p.Pro1370Thr
XM_017029259.2:c.4099C>A	XP_016884748.1:p.Pro1367Thr
XM_017029260.1:c.4090C>A	XP_016884749.1:p.Pro1364Thr
XM_017029263.2:c.2428C>A	XP_016884752.1:p.Pro810Thr
NM_000495.5:c.4075C>A	NP_000486.1:p.Pro1359Thr
NM_033380.3:c.4093C>A MANE Select	NP_203699.1:p.Pro1365Thr