Canonical Allele Identifier: CA413854812

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107930917A>C (hg19) ; chrX:g.108687687A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687687A>C , CM000685.2:g.108687687A>C	GRCh38
NC_000023.10:g.107930917A>C , CM000685.1:g.107930917A>C	GRCh37
NC_000023.9:g.107817573A>C	NCBI36
NG_011977.1:g.252764A>C
NG_011977.2:g.252764A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4521A>C MANE Select	ENSP00000331902.7:p.Gln1507His
ENST00000361603.7:c.4503A>C	ENSP00000354505.2:p.Gln1501His
ENST00000510690.2:n.1015A>C
ENST00000328300.10:c.4521A>C	ENSP00000331902.6:p.Gln1507His
ENST00000361603.6:c.4503A>C	ENSP00000354505.2:p.Gln1501His
ENST00000515658.1:c.317A>C
NM_000495.4:c.4503A>C	NP_000486.1:p.Gln1501His
NM_033380.2:c.4521A>C	NP_203699.1:p.Gln1507His
XM_005262070.2:c.4512A>C	XP_005262127.1:p.Gln1504His
XM_006724616.2:c.4521A>C	XP_006724679.1:p.Gln1507His
XM_011530849.1:c.4197A>C	XP_011529151.1:p.Gln1399His
XM_011530851.1:c.2094A>C	XP_011529153.1:p.Gln698His
XM_011530849.2:c.4536A>C	XP_011529151.2:p.Gln1512His
XM_017029259.2:c.4527A>C	XP_016884748.1:p.Gln1509His
XM_017029260.1:c.4518A>C	XP_016884749.1:p.Gln1506His
XM_017029263.2:c.2856A>C	XP_016884752.1:p.Gln952His
NM_000495.5:c.4503A>C	NP_000486.1:p.Gln1501His
NM_033380.3:c.4521A>C MANE Select	NP_203699.1:p.Gln1507His