Canonical Allele Identifier: CA414132469

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938080A>G (hg19) ; chrX:g.108694850A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694850A>G , CM000685.2:g.108694850A>G	GRCh38
NC_000023.10:g.107938080A>G , CM000685.1:g.107938080A>G	GRCh37
NC_000023.9:g.107824736A>G	NCBI36
NG_011977.1:g.259927A>G
NG_011977.2:g.259927A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4750A>G MANE Select	ENSP00000331902.7:p.Ser1584Gly
ENST00000361603.7:c.4732A>G	ENSP00000354505.2:p.Ser1578Gly
ENST00000510690.2:n.1244A>G
ENST00000644079.1:n.1236A>G
ENST00000328300.10:c.4750A>G	ENSP00000331902.6:p.Ser1584Gly
ENST00000361603.6:c.4732A>G	ENSP00000354505.2:p.Ser1578Gly
ENST00000504541.1:c.148A>G	ENSP00000424845.1:p.Ser50Gly
ENST00000515658.1:c.325-1447A>G
NM_000495.4:c.4732A>G	NP_000486.1:p.Ser1578Gly
NM_033380.2:c.4750A>G	NP_203699.1:p.Ser1584Gly
XM_005262070.2:c.4741A>G	XP_005262127.1:p.Ser1581Gly
XM_006724616.2:c.4750A>G	XP_006724679.1:p.Ser1584Gly
XM_011530849.1:c.4426A>G	XP_011529151.1:p.Ser1476Gly
XM_011530851.1:c.2323A>G	XP_011529153.1:p.Ser775Gly
XM_011530849.2:c.4765A>G	XP_011529151.2:p.Ser1589Gly
XM_017029259.2:c.4756A>G	XP_016884748.1:p.Ser1586Gly
XM_017029260.1:c.4747A>G	XP_016884749.1:p.Ser1583Gly
XM_017029263.2:c.3085A>G	XP_016884752.1:p.Ser1029Gly
NM_000495.5:c.4732A>G	NP_000486.1:p.Ser1578Gly
NM_033380.3:c.4750A>G MANE Select	NP_203699.1:p.Ser1584Gly