Canonical Allele Identifier: CA413853959

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930726G>C (hg19) ; chrX:g.108687496G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687496G>C , CM000685.2:g.108687496G>C	GRCh38
NC_000023.10:g.107930726G>C , CM000685.1:g.107930726G>C	GRCh37
NC_000023.9:g.107817382G>C	NCBI36
NG_011977.1:g.252573G>C
NG_011977.2:g.252573G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4330G>C MANE Select	ENSP00000331902.7:p.Asp1444His
ENST00000361603.7:c.4312G>C	ENSP00000354505.2:p.Asp1438His
ENST00000510690.2:n.824G>C
ENST00000328300.10:c.4330G>C	ENSP00000331902.6:p.Asp1444His
ENST00000361603.6:c.4312G>C	ENSP00000354505.2:p.Asp1438His
ENST00000489230.1:n.733G>C
ENST00000515658.1:c.126G>C
NM_000495.4:c.4312G>C	NP_000486.1:p.Asp1438His
NM_033380.2:c.4330G>C	NP_203699.1:p.Asp1444His
XM_005262070.2:c.4321G>C	XP_005262127.1:p.Asp1441His
XM_006724616.2:c.4330G>C	XP_006724679.1:p.Asp1444His
XM_011530849.1:c.4006G>C	XP_011529151.1:p.Asp1336His
XM_011530851.1:c.1903G>C	XP_011529153.1:p.Asp635His
XM_011530849.2:c.4345G>C	XP_011529151.2:p.Asp1449His
XM_017029259.2:c.4336G>C	XP_016884748.1:p.Asp1446His
XM_017029260.1:c.4327G>C	XP_016884749.1:p.Asp1443His
XM_017029263.2:c.2665G>C	XP_016884752.1:p.Asp889His
NM_000495.5:c.4312G>C	NP_000486.1:p.Asp1438His
NM_033380.3:c.4330G>C MANE Select	NP_203699.1:p.Asp1444His