Canonical Allele Identifier: CA413851180

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107924158G>C (hg19) ; chrX:g.108680928G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680928G>C , CM000685.2:g.108680928G>C	GRCh38
NC_000023.10:g.107924158G>C , CM000685.1:g.107924158G>C	GRCh37
NC_000023.9:g.107810814G>C	NCBI36
NG_011977.1:g.246005G>C
NG_011977.2:g.246005G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4059G>C MANE Select	ENSP00000331902.7:p.Glu1353Asp
ENST00000361603.7:c.4041G>C	ENSP00000354505.2:p.Glu1347Asp
ENST00000510690.2:n.553G>C
ENST00000328300.10:c.4059G>C	ENSP00000331902.6:p.Glu1353Asp
ENST00000361603.6:c.4041G>C	ENSP00000354505.2:p.Glu1347Asp
ENST00000489230.1:n.462G>C
NM_000495.4:c.4041G>C	NP_000486.1:p.Glu1347Asp
NM_033380.2:c.4059G>C	NP_203699.1:p.Glu1353Asp
XM_005262070.2:c.4050G>C	XP_005262127.1:p.Glu1350Asp
XM_006724616.2:c.4059G>C	XP_006724679.1:p.Glu1353Asp
XM_011530849.1:c.3735G>C	XP_011529151.1:p.Glu1245Asp
XM_011530851.1:c.1632G>C	XP_011529153.1:p.Glu544Asp
XM_011530849.2:c.4074G>C	XP_011529151.2:p.Glu1358Asp
XM_017029259.2:c.4065G>C	XP_016884748.1:p.Glu1355Asp
XM_017029260.1:c.4056G>C	XP_016884749.1:p.Glu1352Asp
XM_017029263.2:c.2394G>C	XP_016884752.1:p.Glu798Asp
NM_000495.5:c.4041G>C	NP_000486.1:p.Glu1347Asp
NM_033380.3:c.4059G>C MANE Select	NP_203699.1:p.Glu1353Asp