Canonical Allele Identifier: CA414132775

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938562G>C (hg19) ; chrX:g.108695332G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695332G>C , CM000685.2:g.108695332G>C	GRCh38
NC_000023.10:g.107938562G>C , CM000685.1:g.107938562G>C	GRCh37
NC_000023.9:g.107825218G>C	NCBI36
NG_011977.1:g.260409G>C
NG_011977.2:g.260409G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4887G>C MANE Select	ENSP00000331902.7:p.Glu1629Asp
ENST00000361603.7:c.4869G>C	ENSP00000354505.2:p.Glu1623Asp
ENST00000510690.2:n.1381G>C
ENST00000644079.1:n.1718G>C
ENST00000328300.10:c.4887G>C	ENSP00000331902.6:p.Glu1629Asp
ENST00000361603.6:c.4869G>C	ENSP00000354505.2:p.Glu1623Asp
ENST00000504541.1:c.219+411G>C	ENSP00000424845.1:n.219+411G>C
ENST00000515658.1:c.325-965G>C
NM_000495.4:c.4869G>C	NP_000486.1:p.Glu1623Asp
NM_033380.2:c.4887G>C	NP_203699.1:p.Glu1629Asp
XM_005262070.2:c.4878G>C	XP_005262127.1:p.Glu1626Asp
XM_006724616.2:c.4887G>C	XP_006724679.1:p.Glu1629Asp
XM_011530849.1:c.4563G>C	XP_011529151.1:p.Glu1521Asp
XM_011530851.1:c.2460G>C	XP_011529153.1:p.Glu820Asp
XM_011530849.2:c.4902G>C	XP_011529151.2:p.Glu1634Asp
XM_017029259.2:c.4893G>C	XP_016884748.1:p.Glu1631Asp
XM_017029260.1:c.4884G>C	XP_016884749.1:p.Glu1628Asp
XM_017029263.2:c.3222G>C	XP_016884752.1:p.Glu1074Asp
NM_000495.5:c.4869G>C	NP_000486.1:p.Glu1623Asp
NM_033380.3:c.4887G>C MANE Select	NP_203699.1:p.Glu1629Asp