Canonical Allele Identifier: CA414132792

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938570C>A (hg19) ; chrX:g.108695340C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695340C>A , CM000685.2:g.108695340C>A	GRCh38
NC_000023.10:g.107938570C>A , CM000685.1:g.107938570C>A	GRCh37
NC_000023.9:g.107825226C>A	NCBI36
NG_011977.1:g.260417C>A
NG_011977.2:g.260417C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4895C>A MANE Select	ENSP00000331902.7:p.Ser1632Ter
ENST00000361603.7:c.4877C>A	ENSP00000354505.2:p.Ser1626Ter
ENST00000510690.2:n.1389C>A
ENST00000644079.1:n.1726C>A
ENST00000328300.10:c.4895C>A	ENSP00000331902.6:p.Ser1632Ter
ENST00000361603.6:c.4877C>A	ENSP00000354505.2:p.Ser1626Ter
ENST00000504541.1:c.219+419C>A	ENSP00000424845.1:n.219+419C>A
ENST00000515658.1:c.325-957C>A
NM_000495.4:c.4877C>A	NP_000486.1:p.Ser1626Ter
NM_033380.2:c.4895C>A	NP_203699.1:p.Ser1632Ter
XM_005262070.2:c.4886C>A	XP_005262127.1:p.Ser1629Ter
XM_006724616.2:c.4895C>A	XP_006724679.1:p.Ser1632Ter
XM_011530849.1:c.4571C>A	XP_011529151.1:p.Ser1524Ter
XM_011530851.1:c.2468C>A	XP_011529153.1:p.Ser823Ter
XM_011530849.2:c.4910C>A	XP_011529151.2:p.Ser1637Ter
XM_017029259.2:c.4901C>A	XP_016884748.1:p.Ser1634Ter
XM_017029260.1:c.4892C>A	XP_016884749.1:p.Ser1631Ter
XM_017029263.2:c.3230C>A	XP_016884752.1:p.Ser1077Ter
NM_000495.5:c.4877C>A	NP_000486.1:p.Ser1626Ter
NM_033380.3:c.4895C>A MANE Select	NP_203699.1:p.Ser1632Ter