Canonical Allele Identifier: CA414132625

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938150T>G (hg19) ; chrX:g.108694920T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694920T>G , CM000685.2:g.108694920T>G	GRCh38
NC_000023.10:g.107938150T>G , CM000685.1:g.107938150T>G	GRCh37
NC_000023.9:g.107824806T>G	NCBI36
NG_011977.1:g.259997T>G
NG_011977.2:g.259997T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4820T>G MANE Select	ENSP00000331902.7:p.Met1607Arg
ENST00000361603.7:c.4802T>G	ENSP00000354505.2:p.Met1601Arg
ENST00000510690.2:n.1314T>G
ENST00000644079.1:n.1306T>G
ENST00000328300.10:c.4820T>G	ENSP00000331902.6:p.Met1607Arg
ENST00000361603.6:c.4802T>G	ENSP00000354505.2:p.Met1601Arg
ENST00000504541.1:c.218T>G	ENSP00000424845.1:p.Met73Arg
ENST00000515658.1:c.325-1377T>G
NM_000495.4:c.4802T>G	NP_000486.1:p.Met1601Arg
NM_033380.2:c.4820T>G	NP_203699.1:p.Met1607Arg
XM_005262070.2:c.4811T>G	XP_005262127.1:p.Met1604Arg
XM_006724616.2:c.4820T>G	XP_006724679.1:p.Met1607Arg
XM_011530849.1:c.4496T>G	XP_011529151.1:p.Met1499Arg
XM_011530851.1:c.2393T>G	XP_011529153.1:p.Met798Arg
XM_011530849.2:c.4835T>G	XP_011529151.2:p.Met1612Arg
XM_017029259.2:c.4826T>G	XP_016884748.1:p.Met1609Arg
XM_017029260.1:c.4817T>G	XP_016884749.1:p.Met1606Arg
XM_017029263.2:c.3155T>G	XP_016884752.1:p.Met1052Arg
NM_000495.5:c.4802T>G	NP_000486.1:p.Met1601Arg
NM_033380.3:c.4820T>G MANE Select	NP_203699.1:p.Met1607Arg