Canonical Allele Identifier: CA517926057

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938505T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695275T>C , CM000685.2:g.108695275T>C	GRCh38
NC_000023.10:g.107938505T>C , CM000685.1:g.107938505T>C	GRCh37
NC_000023.9:g.107825161T>C	NCBI36
NG_011977.1:g.260352T>C
NG_011977.2:g.260352T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4830T>C MANE Select	ENSP00000331902.7:p.Ser1610=
ENST00000361603.7:c.4812T>C	ENSP00000354505.2:p.Ser1604=
ENST00000510690.2:n.1324T>C
ENST00000644079.1:n.1661T>C
ENST00000328300.10:c.4830T>C	ENSP00000331902.6:p.Ser1610=
ENST00000361603.6:c.4812T>C	ENSP00000354505.2:p.Ser1604=
ENST00000504541.1:c.219+354T>C	ENSP00000424845.1:n.219+354T>C
ENST00000515658.1:c.325-1022T>C
NM_000495.4:c.4812T>C	NP_000486.1:p.Ser1604=
NM_033380.2:c.4830T>C	NP_203699.1:p.Ser1610=
XM_005262070.2:c.4821T>C	XP_005262127.1:p.Ser1607=
XM_006724616.2:c.4830T>C	XP_006724679.1:p.Ser1610=
XM_011530849.1:c.4506T>C	XP_011529151.1:p.Ser1502=
XM_011530851.1:c.2403T>C	XP_011529153.1:p.Ser801=
XM_011530849.2:c.4845T>C	XP_011529151.2:p.Ser1615=
XM_017029259.2:c.4836T>C	XP_016884748.1:p.Ser1612=
XM_017029260.1:c.4827T>C	XP_016884749.1:p.Ser1609=
XM_017029263.2:c.3165T>C	XP_016884752.1:p.Ser1055=
NM_000495.5:c.4812T>C	NP_000486.1:p.Ser1604=
NM_033380.3:c.4830T>C MANE Select	NP_203699.1:p.Ser1610=