Canonical Allele Identifier: CA414132651

Gene: COL4A5

Linked Data

• gnomAD v4: X-108695273-A-C
• MyVariant Identifiers: chrX:g.107938503A>C (hg19) ; chrX:g.108695273A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695273A>C , CM000685.2:g.108695273A>C	GRCh38
NC_000023.10:g.107938503A>C , CM000685.1:g.107938503A>C	GRCh37
NC_000023.9:g.107825159A>C	NCBI36
NG_011977.1:g.260350A>C
NG_011977.2:g.260350A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4828A>C MANE Select	ENSP00000331902.7:p.Ser1610Arg
ENST00000361603.7:c.4810A>C	ENSP00000354505.2:p.Ser1604Arg
ENST00000510690.2:n.1322A>C
ENST00000644079.1:n.1659A>C
ENST00000328300.10:c.4828A>C	ENSP00000331902.6:p.Ser1610Arg
ENST00000361603.6:c.4810A>C	ENSP00000354505.2:p.Ser1604Arg
ENST00000504541.1:c.219+352A>C	ENSP00000424845.1:n.219+352A>C
ENST00000515658.1:c.325-1024A>C
NM_000495.4:c.4810A>C	NP_000486.1:p.Ser1604Arg
NM_033380.2:c.4828A>C	NP_203699.1:p.Ser1610Arg
XM_005262070.2:c.4819A>C	XP_005262127.1:p.Ser1607Arg
XM_006724616.2:c.4828A>C	XP_006724679.1:p.Ser1610Arg
XM_011530849.1:c.4504A>C	XP_011529151.1:p.Ser1502Arg
XM_011530851.1:c.2401A>C	XP_011529153.1:p.Ser801Arg
XM_011530849.2:c.4843A>C	XP_011529151.2:p.Ser1615Arg
XM_017029259.2:c.4834A>C	XP_016884748.1:p.Ser1612Arg
XM_017029260.1:c.4825A>C	XP_016884749.1:p.Ser1609Arg
XM_017029263.2:c.3163A>C	XP_016884752.1:p.Ser1055Arg
NM_000495.5:c.4810A>C	NP_000486.1:p.Ser1604Arg
NM_033380.3:c.4828A>C MANE Select	NP_203699.1:p.Ser1610Arg