Canonical Allele Identifier: CA414132951

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938639T>A (hg19) ; chrX:g.108695409T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695409T>A , CM000685.2:g.108695409T>A	GRCh38
NC_000023.10:g.107938639T>A , CM000685.1:g.107938639T>A	GRCh37
NC_000023.9:g.107825295T>A	NCBI36
NG_011977.1:g.260486T>A
NG_011977.2:g.260486T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4964T>A MANE Select	ENSP00000331902.7:p.Leu1655Gln
ENST00000361603.7:c.4946T>A	ENSP00000354505.2:p.Leu1649Gln
ENST00000510690.2:n.1458T>A
ENST00000644079.1:n.1795T>A
ENST00000328300.10:c.4964T>A	ENSP00000331902.6:p.Leu1655Gln
ENST00000361603.6:c.4946T>A	ENSP00000354505.2:p.Leu1649Gln
ENST00000504541.1:c.219+488T>A	ENSP00000424845.1:n.219+488T>A
ENST00000515658.1:c.325-888T>A
NM_000495.4:c.4946T>A	NP_000486.1:p.Leu1649Gln
NM_033380.2:c.4964T>A	NP_203699.1:p.Leu1655Gln
XM_005262070.2:c.4955T>A	XP_005262127.1:p.Leu1652Gln
XM_006724616.2:c.4964T>A	XP_006724679.1:p.Leu1655Gln
XM_011530849.1:c.4640T>A	XP_011529151.1:p.Leu1547Gln
XM_011530851.1:c.2537T>A	XP_011529153.1:p.Leu846Gln
XM_011530849.2:c.4979T>A	XP_011529151.2:p.Leu1660Gln
XM_017029259.2:c.4970T>A	XP_016884748.1:p.Leu1657Gln
XM_017029260.1:c.4961T>A	XP_016884749.1:p.Leu1654Gln
XM_017029263.2:c.3299T>A	XP_016884752.1:p.Leu1100Gln
NM_000495.5:c.4946T>A	NP_000486.1:p.Leu1649Gln
NM_033380.3:c.4964T>A MANE Select	NP_203699.1:p.Leu1655Gln