Canonical Allele Identifier: CA413854035

Gene: COL4A5

Linked Data

• gnomAD v4: X-108687521-T-C
• MyVariant Identifiers: chrX:g.107930751T>C (hg19) ; chrX:g.108687521T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687521T>C , CM000685.2:g.108687521T>C	GRCh38
NC_000023.10:g.107930751T>C , CM000685.1:g.107930751T>C	GRCh37
NC_000023.9:g.107817407T>C	NCBI36
NG_011977.1:g.252598T>C
NG_011977.2:g.252598T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4355T>C MANE Select	ENSP00000331902.7:p.Leu1452Ser
ENST00000361603.7:c.4337T>C	ENSP00000354505.2:p.Leu1446Ser
ENST00000510690.2:n.849T>C
ENST00000328300.10:c.4355T>C	ENSP00000331902.6:p.Leu1452Ser
ENST00000361603.6:c.4337T>C	ENSP00000354505.2:p.Leu1446Ser
ENST00000515658.1:c.151T>C
NM_000495.4:c.4337T>C	NP_000486.1:p.Leu1446Ser
NM_033380.2:c.4355T>C	NP_203699.1:p.Leu1452Ser
XM_005262070.2:c.4346T>C	XP_005262127.1:p.Leu1449Ser
XM_006724616.2:c.4355T>C	XP_006724679.1:p.Leu1452Ser
XM_011530849.1:c.4031T>C	XP_011529151.1:p.Leu1344Ser
XM_011530851.1:c.1928T>C	XP_011529153.1:p.Leu643Ser
XM_011530849.2:c.4370T>C	XP_011529151.2:p.Leu1457Ser
XM_017029259.2:c.4361T>C	XP_016884748.1:p.Leu1454Ser
XM_017029260.1:c.4352T>C	XP_016884749.1:p.Leu1451Ser
XM_017029263.2:c.2690T>C	XP_016884752.1:p.Leu897Ser
NM_000495.5:c.4337T>C	NP_000486.1:p.Leu1446Ser
NM_033380.3:c.4355T>C MANE Select	NP_203699.1:p.Leu1452Ser