Canonical Allele Identifier: CA413853978

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930733C>G (hg19) ; chrX:g.108687503C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687503C>G , CM000685.2:g.108687503C>G	GRCh38
NC_000023.10:g.107930733C>G , CM000685.1:g.107930733C>G	GRCh37
NC_000023.9:g.107817389C>G	NCBI36
NG_011977.1:g.252580C>G
NG_011977.2:g.252580C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4337C>G MANE Select	ENSP00000331902.7:p.Pro1446Arg
ENST00000361603.7:c.4319C>G	ENSP00000354505.2:p.Pro1440Arg
ENST00000510690.2:n.831C>G
ENST00000328300.10:c.4337C>G	ENSP00000331902.6:p.Pro1446Arg
ENST00000361603.6:c.4319C>G	ENSP00000354505.2:p.Pro1440Arg
ENST00000515658.1:c.133C>G
NM_000495.4:c.4319C>G	NP_000486.1:p.Pro1440Arg
NM_033380.2:c.4337C>G	NP_203699.1:p.Pro1446Arg
XM_005262070.2:c.4328C>G	XP_005262127.1:p.Pro1443Arg
XM_006724616.2:c.4337C>G	XP_006724679.1:p.Pro1446Arg
XM_011530849.1:c.4013C>G	XP_011529151.1:p.Pro1338Arg
XM_011530851.1:c.1910C>G	XP_011529153.1:p.Pro637Arg
XM_011530849.2:c.4352C>G	XP_011529151.2:p.Pro1451Arg
XM_017029259.2:c.4343C>G	XP_016884748.1:p.Pro1448Arg
XM_017029260.1:c.4334C>G	XP_016884749.1:p.Pro1445Arg
XM_017029263.2:c.2672C>G	XP_016884752.1:p.Pro891Arg
NM_000495.5:c.4319C>G	NP_000486.1:p.Pro1440Arg
NM_033380.3:c.4337C>G MANE Select	NP_203699.1:p.Pro1446Arg