Canonical Allele Identifier: CA413845509

Gene: COL4A5

Linked Data

• gnomAD v4: X-108597531-A-C
• MyVariant Identifiers: chrX:g.107840761A>C (hg19) ; chrX:g.108597531A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108597531A>C , CM000685.2:g.108597531A>C	GRCh38
NC_000023.10:g.107840761A>C , CM000685.1:g.107840761A>C	GRCh37
NC_000023.9:g.107727417A>C	NCBI36
NG_011977.1:g.162608A>C
NG_011977.2:g.162608A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.1742A>C MANE Select	ENSP00000331902.7:p.Asp581Ala
ENST00000361603.7:c.1742A>C	ENSP00000354505.2:p.Asp581Ala
ENST00000328300.10:c.1742A>C	ENSP00000331902.6:p.Asp581Ala
ENST00000361603.6:c.1742A>C	ENSP00000354505.2:p.Asp581Ala
ENST00000483338.1:n.1198A>C
NM_000495.4:c.1742A>C	NP_000486.1:p.Asp581Ala
NM_033380.2:c.1742A>C	NP_203699.1:p.Asp581Ala
XM_005262070.2:c.1742A>C	XP_005262127.1:p.Asp581Ala
XM_005262072.3:c.1742A>C	XP_005262129.1:p.Asp581Ala
XM_006724616.2:c.1742A>C	XP_006724679.1:p.Asp581Ala
XM_011530849.1:c.1418A>C	XP_011529151.1:p.Asp473Ala
XM_011530850.1:c.1742A>C	XP_011529152.1:p.Asp581Ala
XM_011530849.2:c.1757A>C	XP_011529151.2:p.Asp586Ala
XM_017029259.2:c.1757A>C	XP_016884748.1:p.Asp586Ala
XM_017029260.1:c.1757A>C	XP_016884749.1:p.Asp586Ala
XM_017029261.1:c.1757A>C	XP_016884750.1:p.Asp586Ala
XM_017029262.2:c.1757A>C	XP_016884751.1:p.Asp586Ala
XM_017029263.2:c.77A>C	XP_016884752.1:p.Asp26Ala
NM_000495.5:c.1742A>C	NP_000486.1:p.Asp581Ala
NM_033380.3:c.1742A>C MANE Select	NP_203699.1:p.Asp581Ala