Canonical Allele Identifier: CA413853790

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107929345T>C (hg19) ; chrX:g.108686115T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686115T>C , CM000685.2:g.108686115T>C	GRCh38
NC_000023.10:g.107929345T>C , CM000685.1:g.107929345T>C	GRCh37
NC_000023.9:g.107816001T>C	NCBI36
NG_011977.1:g.251192T>C
NG_011977.2:g.251192T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4301T>C MANE Select	ENSP00000331902.7:p.Leu1434Pro
ENST00000361603.7:c.4283T>C	ENSP00000354505.2:p.Leu1428Pro
ENST00000510690.2:n.795T>C
ENST00000328300.10:c.4301T>C	ENSP00000331902.6:p.Leu1434Pro
ENST00000361603.6:c.4283T>C	ENSP00000354505.2:p.Leu1428Pro
ENST00000489230.1:n.704T>C
ENST00000515658.1:c.97T>C
NM_000495.4:c.4283T>C	NP_000486.1:p.Leu1428Pro
NM_033380.2:c.4301T>C	NP_203699.1:p.Leu1434Pro
XM_005262070.2:c.4292T>C	XP_005262127.1:p.Leu1431Pro
XM_006724616.2:c.4301T>C	XP_006724679.1:p.Leu1434Pro
XM_011530849.1:c.3977T>C	XP_011529151.1:p.Leu1326Pro
XM_011530851.1:c.1874T>C	XP_011529153.1:p.Leu625Pro
XM_011530849.2:c.4316T>C	XP_011529151.2:p.Leu1439Pro
XM_017029259.2:c.4307T>C	XP_016884748.1:p.Leu1436Pro
XM_017029260.1:c.4298T>C	XP_016884749.1:p.Leu1433Pro
XM_017029263.2:c.2636T>C	XP_016884752.1:p.Leu879Pro
NM_000495.5:c.4283T>C	NP_000486.1:p.Leu1428Pro
NM_033380.3:c.4301T>C MANE Select	NP_203699.1:p.Leu1434Pro