Canonical Allele Identifier: CA414132820

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938583C>G (hg19) ; chrX:g.108695353C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695353C>G , CM000685.2:g.108695353C>G	GRCh38
NC_000023.10:g.107938583C>G , CM000685.1:g.107938583C>G	GRCh37
NC_000023.9:g.107825239C>G	NCBI36
NG_011977.1:g.260430C>G
NG_011977.2:g.260430C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4908C>G MANE Select	ENSP00000331902.7:p.Ile1636Met
ENST00000361603.7:c.4890C>G	ENSP00000354505.2:p.Ile1630Met
ENST00000510690.2:n.1402C>G
ENST00000644079.1:n.1739C>G
ENST00000328300.10:c.4908C>G	ENSP00000331902.6:p.Ile1636Met
ENST00000361603.6:c.4890C>G	ENSP00000354505.2:p.Ile1630Met
ENST00000504541.1:c.219+432C>G	ENSP00000424845.1:n.219+432C>G
ENST00000515658.1:c.325-944C>G
NM_000495.4:c.4890C>G	NP_000486.1:p.Ile1630Met
NM_033380.2:c.4908C>G	NP_203699.1:p.Ile1636Met
XM_005262070.2:c.4899C>G	XP_005262127.1:p.Ile1633Met
XM_006724616.2:c.4908C>G	XP_006724679.1:p.Ile1636Met
XM_011530849.1:c.4584C>G	XP_011529151.1:p.Ile1528Met
XM_011530851.1:c.2481C>G	XP_011529153.1:p.Ile827Met
XM_011530849.2:c.4923C>G	XP_011529151.2:p.Ile1641Met
XM_017029259.2:c.4914C>G	XP_016884748.1:p.Ile1638Met
XM_017029260.1:c.4905C>G	XP_016884749.1:p.Ile1635Met
XM_017029263.2:c.3243C>G	XP_016884752.1:p.Ile1081Met
NM_000495.5:c.4890C>G	NP_000486.1:p.Ile1630Met
NM_033380.3:c.4908C>G MANE Select	NP_203699.1:p.Ile1636Met