Canonical Allele Identifier: CA10489365

Gene: COL4A5

Linked Data

• dbSNP Id: rs143176069
• ExAC: X:107930913 G / T
• gnomAD v2: X-107930913-G-T
• MyVariant Identifiers: chrX:g.107930913G>T (hg19) ; chrX:g.108687683G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687683G>T , CM000685.2:g.108687683G>T	GRCh38
NC_000023.10:g.107930913G>T , CM000685.1:g.107930913G>T	GRCh37
NC_000023.9:g.107817569G>T	NCBI36
NG_011977.1:g.252760G>T
NG_011977.2:g.252760G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4517G>T MANE Select	ENSP00000331902.7:p.Gly1506Val
ENST00000361603.7:c.4499G>T	ENSP00000354505.2:p.Gly1500Val
ENST00000510690.2:n.1011G>T
ENST00000328300.10:c.4517G>T	ENSP00000331902.6:p.Gly1506Val
ENST00000361603.6:c.4499G>T	ENSP00000354505.2:p.Gly1500Val
ENST00000515658.1:c.313G>T
NM_000495.4:c.4499G>T	NP_000486.1:p.Gly1500Val
NM_033380.2:c.4517G>T	NP_203699.1:p.Gly1506Val
XM_005262070.2:c.4508G>T	XP_005262127.1:p.Gly1503Val
XM_006724616.2:c.4517G>T	XP_006724679.1:p.Gly1506Val
XM_011530849.1:c.4193G>T	XP_011529151.1:p.Gly1398Val
XM_011530851.1:c.2090G>T	XP_011529153.1:p.Gly697Val
XM_011530849.2:c.4532G>T	XP_011529151.2:p.Gly1511Val
XM_017029259.2:c.4523G>T	XP_016884748.1:p.Gly1508Val
XM_017029260.1:c.4514G>T	XP_016884749.1:p.Gly1505Val
XM_017029263.2:c.2852G>T	XP_016884752.1:p.Gly951Val
NM_000495.5:c.4499G>T	NP_000486.1:p.Gly1500Val
NM_033380.3:c.4517G>T MANE Select	NP_203699.1:p.Gly1506Val