Canonical Allele Identifier: CA414132474

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938082T>A (hg19) ; chrX:g.108694852T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694852T>A , CM000685.2:g.108694852T>A	GRCh38
NC_000023.10:g.107938082T>A , CM000685.1:g.107938082T>A	GRCh37
NC_000023.9:g.107824738T>A	NCBI36
NG_011977.1:g.259929T>A
NG_011977.2:g.259929T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4752T>A MANE Select	ENSP00000331902.7:p.Ser1584Arg
ENST00000361603.7:c.4734T>A	ENSP00000354505.2:p.Ser1578Arg
ENST00000510690.2:n.1246T>A
ENST00000644079.1:n.1238T>A
ENST00000328300.10:c.4752T>A	ENSP00000331902.6:p.Ser1584Arg
ENST00000361603.6:c.4734T>A	ENSP00000354505.2:p.Ser1578Arg
ENST00000504541.1:c.150T>A	ENSP00000424845.1:p.Ser50Arg
ENST00000515658.1:c.325-1445T>A
NM_000495.4:c.4734T>A	NP_000486.1:p.Ser1578Arg
NM_033380.2:c.4752T>A	NP_203699.1:p.Ser1584Arg
XM_005262070.2:c.4743T>A	XP_005262127.1:p.Ser1581Arg
XM_006724616.2:c.4752T>A	XP_006724679.1:p.Ser1584Arg
XM_011530849.1:c.4428T>A	XP_011529151.1:p.Ser1476Arg
XM_011530851.1:c.2325T>A	XP_011529153.1:p.Ser775Arg
XM_011530849.2:c.4767T>A	XP_011529151.2:p.Ser1589Arg
XM_017029259.2:c.4758T>A	XP_016884748.1:p.Ser1586Arg
XM_017029260.1:c.4749T>A	XP_016884749.1:p.Ser1583Arg
XM_017029263.2:c.3087T>A	XP_016884752.1:p.Ser1029Arg
NM_000495.5:c.4734T>A	NP_000486.1:p.Ser1578Arg
NM_033380.3:c.4752T>A MANE Select	NP_203699.1:p.Ser1584Arg