Canonical Allele Identifier: CA414132788

Gene: COL4A5

Linked Data

• dbSNP Id: rs372369187
• MyVariant Identifiers: chrX:g.107938567G>T (hg19) ; chrX:g.108695337G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695337G>T , CM000685.2:g.108695337G>T	GRCh38
NC_000023.10:g.107938567G>T , CM000685.1:g.107938567G>T	GRCh37
NC_000023.9:g.107825223G>T	NCBI36
NG_011977.1:g.260414G>T
NG_011977.2:g.260414G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4892G>T MANE Select	ENSP00000331902.7:p.Arg1631Leu
ENST00000361603.7:c.4874G>T	ENSP00000354505.2:p.Arg1625Leu
ENST00000510690.2:n.1386G>T
ENST00000644079.1:n.1723G>T
ENST00000328300.10:c.4892G>T	ENSP00000331902.6:p.Arg1631Leu
ENST00000361603.6:c.4874G>T	ENSP00000354505.2:p.Arg1625Leu
ENST00000504541.1:c.219+416G>T	ENSP00000424845.1:n.219+416G>T
ENST00000515658.1:c.325-960G>T
NM_000495.4:c.4874G>T	NP_000486.1:p.Arg1625Leu
NM_033380.2:c.4892G>T	NP_203699.1:p.Arg1631Leu
XM_005262070.2:c.4883G>T	XP_005262127.1:p.Arg1628Leu
XM_006724616.2:c.4892G>T	XP_006724679.1:p.Arg1631Leu
XM_011530849.1:c.4568G>T	XP_011529151.1:p.Arg1523Leu
XM_011530851.1:c.2465G>T	XP_011529153.1:p.Arg822Leu
XM_011530849.2:c.4907G>T	XP_011529151.2:p.Arg1636Leu
XM_017029259.2:c.4898G>T	XP_016884748.1:p.Arg1633Leu
XM_017029260.1:c.4889G>T	XP_016884749.1:p.Arg1630Leu
XM_017029263.2:c.3227G>T	XP_016884752.1:p.Arg1076Leu
NM_000495.5:c.4874G>T	NP_000486.1:p.Arg1625Leu
NM_033380.3:c.4892G>T MANE Select	NP_203699.1:p.Arg1631Leu