Canonical Allele Identifier: CA414132530

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938107C>G (hg19) ; chrX:g.108694877C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694877C>G , CM000685.2:g.108694877C>G	GRCh38
NC_000023.10:g.107938107C>G , CM000685.1:g.107938107C>G	GRCh37
NC_000023.9:g.107824763C>G	NCBI36
NG_011977.1:g.259954C>G
NG_011977.2:g.259954C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4777C>G MANE Select	ENSP00000331902.7:p.Pro1593Ala
ENST00000361603.7:c.4759C>G	ENSP00000354505.2:p.Pro1587Ala
ENST00000510690.2:n.1271C>G
ENST00000644079.1:n.1263C>G
ENST00000328300.10:c.4777C>G	ENSP00000331902.6:p.Pro1593Ala
ENST00000361603.6:c.4759C>G	ENSP00000354505.2:p.Pro1587Ala
ENST00000504541.1:c.175C>G	ENSP00000424845.1:p.Pro59Ala
ENST00000515658.1:c.325-1420C>G
NM_000495.4:c.4759C>G	NP_000486.1:p.Pro1587Ala
NM_033380.2:c.4777C>G	NP_203699.1:p.Pro1593Ala
XM_005262070.2:c.4768C>G	XP_005262127.1:p.Pro1590Ala
XM_006724616.2:c.4777C>G	XP_006724679.1:p.Pro1593Ala
XM_011530849.1:c.4453C>G	XP_011529151.1:p.Pro1485Ala
XM_011530851.1:c.2350C>G	XP_011529153.1:p.Pro784Ala
XM_011530849.2:c.4792C>G	XP_011529151.2:p.Pro1598Ala
XM_017029259.2:c.4783C>G	XP_016884748.1:p.Pro1595Ala
XM_017029260.1:c.4774C>G	XP_016884749.1:p.Pro1592Ala
XM_017029263.2:c.3112C>G	XP_016884752.1:p.Pro1038Ala
NM_000495.5:c.4759C>G	NP_000486.1:p.Pro1587Ala
NM_033380.3:c.4777C>G MANE Select	NP_203699.1:p.Pro1593Ala