Canonical Allele Identifier: CA413921018

Gene: COL4A5

Linked Data

• dbSNP Id: rs2066100049
• gnomAD v4: X-108573632-A-C
• MyVariant Identifiers: chrX:g.107816862A>C (hg19) ; chrX:g.108573632A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108573632A>C , CM000685.2:g.108573632A>C	GRCh38
NC_000023.10:g.107816862A>C , CM000685.1:g.107816862A>C	GRCh37
NC_000023.9:g.107703518A>C	NCBI36
NG_011977.1:g.138709A>C
NG_011977.2:g.138709A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.524A>C MANE Select	ENSP00000331902.7:p.Tyr175Ser
ENST00000361603.7:c.524A>C	ENSP00000354505.2:p.Tyr175Ser
ENST00000328300.10:c.524A>C	ENSP00000331902.6:p.Tyr175Ser
ENST00000361603.6:c.524A>C	ENSP00000354505.2:p.Tyr175Ser
NM_000495.4:c.524A>C	NP_000486.1:p.Tyr175Ser
NM_033380.2:c.524A>C	NP_203699.1:p.Tyr175Ser
XM_005262070.2:c.524A>C	XP_005262127.1:p.Tyr175Ser
XM_005262072.3:c.524A>C	XP_005262129.1:p.Tyr175Ser
XM_006724616.2:c.524A>C	XP_006724679.1:p.Tyr175Ser
XM_011530849.1:c.200A>C	XP_011529151.1:p.Tyr67Ser
XM_011530850.1:c.524A>C	XP_011529152.1:p.Tyr175Ser
XM_011530849.2:c.539A>C	XP_011529151.2:p.Tyr180Ser
XM_017029259.2:c.539A>C	XP_016884748.1:p.Tyr180Ser
XM_017029260.1:c.539A>C	XP_016884749.1:p.Tyr180Ser
XM_017029261.1:c.539A>C	XP_016884750.1:p.Tyr180Ser
XM_017029262.2:c.539A>C	XP_016884751.1:p.Tyr180Ser
NM_000495.5:c.524A>C	NP_000486.1:p.Tyr175Ser
NM_033380.3:c.524A>C MANE Select	NP_203699.1:p.Tyr175Ser