Canonical Allele Identifier: CA414132670

Gene: COL4A5

Linked Data

• gnomAD v4: X-108695282-G-A
• COSMIC: COSM6328587 ; COSM6328588
• MyVariant Identifiers: chrX:g.107938512G>A (hg19) ; chrX:g.108695282G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695282G>A , CM000685.2:g.108695282G>A	GRCh38
NC_000023.10:g.107938512G>A , CM000685.1:g.107938512G>A	GRCh37
NC_000023.9:g.107825168G>A	NCBI36
NG_011977.1:g.260359G>A
NG_011977.2:g.260359G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4837G>A MANE Select	ENSP00000331902.7:p.Ala1613Thr
ENST00000361603.7:c.4819G>A	ENSP00000354505.2:p.Ala1607Thr
ENST00000510690.2:n.1331G>A
ENST00000644079.1:n.1668G>A
ENST00000328300.10:c.4837G>A	ENSP00000331902.6:p.Ala1613Thr
ENST00000361603.6:c.4819G>A	ENSP00000354505.2:p.Ala1607Thr
ENST00000504541.1:c.219+361G>A	ENSP00000424845.1:n.219+361G>A
ENST00000515658.1:c.325-1015G>A
NM_000495.4:c.4819G>A	NP_000486.1:p.Ala1607Thr
NM_033380.2:c.4837G>A	NP_203699.1:p.Ala1613Thr
XM_005262070.2:c.4828G>A	XP_005262127.1:p.Ala1610Thr
XM_006724616.2:c.4837G>A	XP_006724679.1:p.Ala1613Thr
XM_011530849.1:c.4513G>A	XP_011529151.1:p.Ala1505Thr
XM_011530851.1:c.2410G>A	XP_011529153.1:p.Ala804Thr
XM_011530849.2:c.4852G>A	XP_011529151.2:p.Ala1618Thr
XM_017029259.2:c.4843G>A	XP_016884748.1:p.Ala1615Thr
XM_017029260.1:c.4834G>A	XP_016884749.1:p.Ala1612Thr
XM_017029263.2:c.3172G>A	XP_016884752.1:p.Ala1058Thr
NM_000495.5:c.4819G>A	NP_000486.1:p.Ala1607Thr
NM_033380.3:c.4837G>A MANE Select	NP_203699.1:p.Ala1613Thr