Canonical Allele Identifier: CA413854072

Gene: COL4A5

Linked Data

• gnomAD v4: X-108687529-C-T
• MyVariant Identifiers: chrX:g.107930759C>T (hg19) ; chrX:g.108687529C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687529C>T , CM000685.2:g.108687529C>T	GRCh38
NC_000023.10:g.107930759C>T , CM000685.1:g.107930759C>T	GRCh37
NC_000023.9:g.107817415C>T	NCBI36
NG_011977.1:g.252606C>T
NG_011977.2:g.252606C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4363C>T MANE Select	ENSP00000331902.7:p.Pro1455Ser
ENST00000361603.7:c.4345C>T	ENSP00000354505.2:p.Pro1449Ser
ENST00000510690.2:n.857C>T
ENST00000328300.10:c.4363C>T	ENSP00000331902.6:p.Pro1455Ser
ENST00000361603.6:c.4345C>T	ENSP00000354505.2:p.Pro1449Ser
ENST00000515658.1:c.159C>T
NM_000495.4:c.4345C>T	NP_000486.1:p.Pro1449Ser
NM_033380.2:c.4363C>T	NP_203699.1:p.Pro1455Ser
XM_005262070.2:c.4354C>T	XP_005262127.1:p.Pro1452Ser
XM_006724616.2:c.4363C>T	XP_006724679.1:p.Pro1455Ser
XM_011530849.1:c.4039C>T	XP_011529151.1:p.Pro1347Ser
XM_011530851.1:c.1936C>T	XP_011529153.1:p.Pro646Ser
XM_011530849.2:c.4378C>T	XP_011529151.2:p.Pro1460Ser
XM_017029259.2:c.4369C>T	XP_016884748.1:p.Pro1457Ser
XM_017029260.1:c.4360C>T	XP_016884749.1:p.Pro1454Ser
XM_017029263.2:c.2698C>T	XP_016884752.1:p.Pro900Ser
NM_000495.5:c.4345C>T	NP_000486.1:p.Pro1449Ser
NM_033380.3:c.4363C>T MANE Select	NP_203699.1:p.Pro1455Ser