Canonical Allele Identifier: CA413852299

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107925079A>C (hg19) ; chrX:g.108681849A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681849A>C , CM000685.2:g.108681849A>C	GRCh38
NC_000023.10:g.107925079A>C , CM000685.1:g.107925079A>C	GRCh37
NC_000023.9:g.107811735A>C	NCBI36
NG_011977.1:g.246926A>C
NG_011977.2:g.246926A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4177A>C MANE Select	ENSP00000331902.7:p.Lys1393Gln
ENST00000361603.7:c.4159A>C	ENSP00000354505.2:p.Lys1387Gln
ENST00000510690.2:n.671A>C
ENST00000328300.10:c.4177A>C	ENSP00000331902.6:p.Lys1393Gln
ENST00000361603.6:c.4159A>C	ENSP00000354505.2:p.Lys1387Gln
ENST00000489230.1:n.580A>C
NM_000495.4:c.4159A>C	NP_000486.1:p.Lys1387Gln
NM_033380.2:c.4177A>C	NP_203699.1:p.Lys1393Gln
XM_005262070.2:c.4168A>C	XP_005262127.1:p.Lys1390Gln
XM_006724616.2:c.4177A>C	XP_006724679.1:p.Lys1393Gln
XM_011530849.1:c.3853A>C	XP_011529151.1:p.Lys1285Gln
XM_011530851.1:c.1750A>C	XP_011529153.1:p.Lys584Gln
XM_011530849.2:c.4192A>C	XP_011529151.2:p.Lys1398Gln
XM_017029259.2:c.4183A>C	XP_016884748.1:p.Lys1395Gln
XM_017029260.1:c.4174A>C	XP_016884749.1:p.Lys1392Gln
XM_017029263.2:c.2512A>C	XP_016884752.1:p.Lys838Gln
NM_000495.5:c.4159A>C	NP_000486.1:p.Lys1387Gln
NM_033380.3:c.4177A>C MANE Select	NP_203699.1:p.Lys1393Gln