Canonical Allele Identifier: CA414132799

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938573C>A (hg19) ; chrX:g.108695343C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695343C>A , CM000685.2:g.108695343C>A	GRCh38
NC_000023.10:g.107938573C>A , CM000685.1:g.107938573C>A	GRCh37
NC_000023.9:g.107825229C>A	NCBI36
NG_011977.1:g.260420C>A
NG_011977.2:g.260420C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4898C>A MANE Select	ENSP00000331902.7:p.Ala1633Asp
ENST00000361603.7:c.4880C>A	ENSP00000354505.2:p.Ala1627Asp
ENST00000510690.2:n.1392C>A
ENST00000644079.1:n.1729C>A
ENST00000328300.10:c.4898C>A	ENSP00000331902.6:p.Ala1633Asp
ENST00000361603.6:c.4880C>A	ENSP00000354505.2:p.Ala1627Asp
ENST00000504541.1:c.219+422C>A	ENSP00000424845.1:n.219+422C>A
ENST00000515658.1:c.325-954C>A
NM_000495.4:c.4880C>A	NP_000486.1:p.Ala1627Asp
NM_033380.2:c.4898C>A	NP_203699.1:p.Ala1633Asp
XM_005262070.2:c.4889C>A	XP_005262127.1:p.Ala1630Asp
XM_006724616.2:c.4898C>A	XP_006724679.1:p.Ala1633Asp
XM_011530849.1:c.4574C>A	XP_011529151.1:p.Ala1525Asp
XM_011530851.1:c.2471C>A	XP_011529153.1:p.Ala824Asp
XM_011530849.2:c.4913C>A	XP_011529151.2:p.Ala1638Asp
XM_017029259.2:c.4904C>A	XP_016884748.1:p.Ala1635Asp
XM_017029260.1:c.4895C>A	XP_016884749.1:p.Ala1632Asp
XM_017029263.2:c.3233C>A	XP_016884752.1:p.Ala1078Asp
NM_000495.5:c.4880C>A	NP_000486.1:p.Ala1627Asp
NM_033380.3:c.4898C>A MANE Select	NP_203699.1:p.Ala1633Asp