Canonical Allele Identifier: CA413908747

Gene: COL4A5

Linked Data

• gnomAD v3: X-108539776-T-G
• gnomAD v4: X-108539776-T-G
• MyVariant Identifiers: chrX:g.107783006T>G (hg19) ; chrX:g.108539776T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108539776T>G , CM000685.2:g.108539776T>G	GRCh38
NC_000023.10:g.107783006T>G , CM000685.1:g.107783006T>G	GRCh37
NC_000023.9:g.107669662T>G	NCBI36
NG_011977.1:g.104853T>G
NG_011977.2:g.104853T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.112T>G MANE Select	ENSP00000331902.7:p.Cys38Gly
ENST00000361603.7:c.112T>G	ENSP00000354505.2:p.Cys38Gly
ENST00000328300.10:c.112T>G	ENSP00000331902.6:p.Cys38Gly
ENST00000361603.6:c.112T>G	ENSP00000354505.2:p.Cys38Gly
ENST00000470339.1:n.296T>G
NM_000495.4:c.112T>G	NP_000486.1:p.Cys38Gly
NM_033380.2:c.112T>G	NP_203699.1:p.Cys38Gly
XM_005262070.2:c.112T>G	XP_005262127.1:p.Cys38Gly
XM_005262072.3:c.112T>G	XP_005262129.1:p.Cys38Gly
XM_006724616.2:c.112T>G	XP_006724679.1:p.Cys38Gly
XM_011530849.1:c.-213T>G	XP_011529151.1:n.-213T>G
XM_011530850.1:c.112T>G	XP_011529152.1:p.Cys38Gly
XM_011530849.2:c.127T>G	XP_011529151.2:p.Cys43Gly
XM_017029259.2:c.127T>G	XP_016884748.1:p.Cys43Gly
XM_017029260.1:c.127T>G	XP_016884749.1:p.Cys43Gly
XM_017029261.1:c.127T>G	XP_016884750.1:p.Cys43Gly
XM_017029262.2:c.127T>G	XP_016884751.1:p.Cys43Gly
NM_000495.5:c.112T>G	NP_000486.1:p.Cys38Gly
NM_033380.3:c.112T>G MANE Select	NP_203699.1:p.Cys38Gly