Canonical Allele Identifier: CA414132615

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938147T>G (hg19) ; chrX:g.108694917T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694917T>G , CM000685.2:g.108694917T>G	GRCh38
NC_000023.10:g.107938147T>G , CM000685.1:g.107938147T>G	GRCh37
NC_000023.9:g.107824803T>G	NCBI36
NG_011977.1:g.259994T>G
NG_011977.2:g.259994T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4817T>G MANE Select	ENSP00000331902.7:p.Met1606Arg
ENST00000361603.7:c.4799T>G	ENSP00000354505.2:p.Met1600Arg
ENST00000510690.2:n.1311T>G
ENST00000644079.1:n.1303T>G
ENST00000328300.10:c.4817T>G	ENSP00000331902.6:p.Met1606Arg
ENST00000361603.6:c.4799T>G	ENSP00000354505.2:p.Met1600Arg
ENST00000504541.1:c.215T>G	ENSP00000424845.1:p.Met72Arg
ENST00000515658.1:c.325-1380T>G
NM_000495.4:c.4799T>G	NP_000486.1:p.Met1600Arg
NM_033380.2:c.4817T>G	NP_203699.1:p.Met1606Arg
XM_005262070.2:c.4808T>G	XP_005262127.1:p.Met1603Arg
XM_006724616.2:c.4817T>G	XP_006724679.1:p.Met1606Arg
XM_011530849.1:c.4493T>G	XP_011529151.1:p.Met1498Arg
XM_011530851.1:c.2390T>G	XP_011529153.1:p.Met797Arg
XM_011530849.2:c.4832T>G	XP_011529151.2:p.Met1611Arg
XM_017029259.2:c.4823T>G	XP_016884748.1:p.Met1608Arg
XM_017029260.1:c.4814T>G	XP_016884749.1:p.Met1605Arg
XM_017029263.2:c.3152T>G	XP_016884752.1:p.Met1051Arg
NM_000495.5:c.4799T>G	NP_000486.1:p.Met1600Arg
NM_033380.3:c.4817T>G MANE Select	NP_203699.1:p.Met1606Arg