Canonical Allele Identifier: CA413850094

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107920738G>C (hg19) ; chrX:g.108677508G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108677508G>C , CM000685.2:g.108677508G>C	GRCh38
NC_000023.10:g.107920738G>C , CM000685.1:g.107920738G>C	GRCh37
NC_000023.9:g.107807394G>C	NCBI36
NG_011977.1:g.242585G>C
NG_011977.2:g.242585G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3817G>C MANE Select	ENSP00000331902.7:p.Gly1273Arg
ENST00000361603.7:c.3799G>C	ENSP00000354505.2:p.Gly1267Arg
ENST00000510690.2:n.311G>C
ENST00000328300.10:c.3817G>C	ENSP00000331902.6:p.Gly1273Arg
ENST00000361603.6:c.3799G>C	ENSP00000354505.2:p.Gly1267Arg
ENST00000489230.1:n.220G>C
ENST00000510690.1:n.311G>C
NM_000495.4:c.3799G>C	NP_000486.1:p.Gly1267Arg
NM_033380.2:c.3817G>C	NP_203699.1:p.Gly1273Arg
XM_005262070.2:c.3808G>C	XP_005262127.1:p.Gly1270Arg
XM_006724616.2:c.3817G>C	XP_006724679.1:p.Gly1273Arg
XM_011530849.1:c.3493G>C	XP_011529151.1:p.Gly1165Arg
XM_011530851.1:c.1390G>C	XP_011529153.1:p.Gly464Arg
XM_011530849.2:c.3832G>C	XP_011529151.2:p.Gly1278Arg
XM_017029259.2:c.3823G>C	XP_016884748.1:p.Gly1275Arg
XM_017029260.1:c.3814G>C	XP_016884749.1:p.Gly1272Arg
XM_017029261.1:c.3832G>C	XP_016884750.1:p.Gly1278Arg
XM_017029263.2:c.2152G>C	XP_016884752.1:p.Gly718Arg
NM_000495.5:c.3799G>C	NP_000486.1:p.Gly1267Arg
NM_033380.3:c.3817G>C MANE Select	NP_203699.1:p.Gly1273Arg