Canonical Allele Identifier: CA414132549

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938116T>C (hg19) ; chrX:g.108694886T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694886T>C , CM000685.2:g.108694886T>C	GRCh38
NC_000023.10:g.107938116T>C , CM000685.1:g.107938116T>C	GRCh37
NC_000023.9:g.107824772T>C	NCBI36
NG_011977.1:g.259963T>C
NG_011977.2:g.259963T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4786T>C MANE Select	ENSP00000331902.7:p.Trp1596Arg
ENST00000361603.7:c.4768T>C	ENSP00000354505.2:p.Trp1590Arg
ENST00000510690.2:n.1280T>C
ENST00000644079.1:n.1272T>C
ENST00000328300.10:c.4786T>C	ENSP00000331902.6:p.Trp1596Arg
ENST00000361603.6:c.4768T>C	ENSP00000354505.2:p.Trp1590Arg
ENST00000504541.1:c.184T>C	ENSP00000424845.1:p.Trp62Arg
ENST00000515658.1:c.325-1411T>C
NM_000495.4:c.4768T>C	NP_000486.1:p.Trp1590Arg
NM_033380.2:c.4786T>C	NP_203699.1:p.Trp1596Arg
XM_005262070.2:c.4777T>C	XP_005262127.1:p.Trp1593Arg
XM_006724616.2:c.4786T>C	XP_006724679.1:p.Trp1596Arg
XM_011530849.1:c.4462T>C	XP_011529151.1:p.Trp1488Arg
XM_011530851.1:c.2359T>C	XP_011529153.1:p.Trp787Arg
XM_011530849.2:c.4801T>C	XP_011529151.2:p.Trp1601Arg
XM_017029259.2:c.4792T>C	XP_016884748.1:p.Trp1598Arg
XM_017029260.1:c.4783T>C	XP_016884749.1:p.Trp1595Arg
XM_017029263.2:c.3121T>C	XP_016884752.1:p.Trp1041Arg
NM_000495.5:c.4768T>C	NP_000486.1:p.Trp1590Arg
NM_033380.3:c.4786T>C MANE Select	NP_203699.1:p.Trp1596Arg