Canonical Allele Identifier: CA413854343

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930828G>C (hg19) ; chrX:g.108687598G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687598G>C , CM000685.2:g.108687598G>C	GRCh38
NC_000023.10:g.107930828G>C , CM000685.1:g.107930828G>C	GRCh37
NC_000023.9:g.107817484G>C	NCBI36
NG_011977.1:g.252675G>C
NG_011977.2:g.252675G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4432G>C MANE Select	ENSP00000331902.7:p.Asp1478His
ENST00000361603.7:c.4414G>C	ENSP00000354505.2:p.Asp1472His
ENST00000510690.2:n.926G>C
ENST00000328300.10:c.4432G>C	ENSP00000331902.6:p.Asp1478His
ENST00000361603.6:c.4414G>C	ENSP00000354505.2:p.Asp1472His
ENST00000515658.1:c.228G>C
NM_000495.4:c.4414G>C	NP_000486.1:p.Asp1472His
NM_033380.2:c.4432G>C	NP_203699.1:p.Asp1478His
XM_005262070.2:c.4423G>C	XP_005262127.1:p.Asp1475His
XM_006724616.2:c.4432G>C	XP_006724679.1:p.Asp1478His
XM_011530849.1:c.4108G>C	XP_011529151.1:p.Asp1370His
XM_011530851.1:c.2005G>C	XP_011529153.1:p.Asp669His
XM_011530849.2:c.4447G>C	XP_011529151.2:p.Asp1483His
XM_017029259.2:c.4438G>C	XP_016884748.1:p.Asp1480His
XM_017029260.1:c.4429G>C	XP_016884749.1:p.Asp1477His
XM_017029263.2:c.2767G>C	XP_016884752.1:p.Asp923His
NM_000495.5:c.4414G>C	NP_000486.1:p.Asp1472His
NM_033380.3:c.4432G>C MANE Select	NP_203699.1:p.Asp1478His