Canonical Allele Identifier: CA413851912

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107925003A>C (hg19) ; chrX:g.108681773A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681773A>C , CM000685.2:g.108681773A>C	GRCh38
NC_000023.10:g.107925003A>C , CM000685.1:g.107925003A>C	GRCh37
NC_000023.9:g.107811659A>C	NCBI36
NG_011977.1:g.246850A>C
NG_011977.2:g.246850A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4101A>C MANE Select	ENSP00000331902.7:p.Leu1367Phe
ENST00000361603.7:c.4083A>C	ENSP00000354505.2:p.Leu1361Phe
ENST00000510690.2:n.595A>C
ENST00000328300.10:c.4101A>C	ENSP00000331902.6:p.Leu1367Phe
ENST00000361603.6:c.4083A>C	ENSP00000354505.2:p.Leu1361Phe
ENST00000489230.1:n.504A>C
NM_000495.4:c.4083A>C	NP_000486.1:p.Leu1361Phe
NM_033380.2:c.4101A>C	NP_203699.1:p.Leu1367Phe
XM_005262070.2:c.4092A>C	XP_005262127.1:p.Leu1364Phe
XM_006724616.2:c.4101A>C	XP_006724679.1:p.Leu1367Phe
XM_011530849.1:c.3777A>C	XP_011529151.1:p.Leu1259Phe
XM_011530851.1:c.1674A>C	XP_011529153.1:p.Leu558Phe
XM_011530849.2:c.4116A>C	XP_011529151.2:p.Leu1372Phe
XM_017029259.2:c.4107A>C	XP_016884748.1:p.Leu1369Phe
XM_017029260.1:c.4098A>C	XP_016884749.1:p.Leu1366Phe
XM_017029263.2:c.2436A>C	XP_016884752.1:p.Leu812Phe
NM_000495.5:c.4083A>C	NP_000486.1:p.Leu1361Phe
NM_033380.3:c.4101A>C MANE Select	NP_203699.1:p.Leu1367Phe