Canonical Allele Identifier: CA413852431

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107925104C>G (hg19) ; chrX:g.108681874C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681874C>G , CM000685.2:g.108681874C>G	GRCh38
NC_000023.10:g.107925104C>G , CM000685.1:g.107925104C>G	GRCh37
NC_000023.9:g.107811760C>G	NCBI36
NG_011977.1:g.246951C>G
NG_011977.2:g.246951C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4202C>G MANE Select	ENSP00000331902.7:p.Pro1401Arg
ENST00000361603.7:c.4184C>G	ENSP00000354505.2:p.Pro1395Arg
ENST00000510690.2:n.696C>G
ENST00000328300.10:c.4202C>G	ENSP00000331902.6:p.Pro1401Arg
ENST00000361603.6:c.4184C>G	ENSP00000354505.2:p.Pro1395Arg
ENST00000489230.1:n.605C>G
NM_000495.4:c.4184C>G	NP_000486.1:p.Pro1395Arg
NM_033380.2:c.4202C>G	NP_203699.1:p.Pro1401Arg
XM_005262070.2:c.4193C>G	XP_005262127.1:p.Pro1398Arg
XM_006724616.2:c.4202C>G	XP_006724679.1:p.Pro1401Arg
XM_011530849.1:c.3878C>G	XP_011529151.1:p.Pro1293Arg
XM_011530851.1:c.1775C>G	XP_011529153.1:p.Pro592Arg
XM_011530849.2:c.4217C>G	XP_011529151.2:p.Pro1406Arg
XM_017029259.2:c.4208C>G	XP_016884748.1:p.Pro1403Arg
XM_017029260.1:c.4199C>G	XP_016884749.1:p.Pro1400Arg
XM_017029263.2:c.2537C>G	XP_016884752.1:p.Pro846Arg
NM_000495.5:c.4184C>G	NP_000486.1:p.Pro1395Arg
NM_033380.3:c.4202C>G MANE Select	NP_203699.1:p.Pro1401Arg