Canonical Allele Identifier: CA517926158
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107938649A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108695419A>T , CM000685.2:g.108695419A>T GRCh38
NC_000023.10:g.107938649A>T , CM000685.1:g.107938649A>T GRCh37
NC_000023.9:g.107825305A>T NCBI36
NG_011977.1:g.260496A>T
NG_011977.2:g.260496A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328300.11:c.4974A>T MANE Select ENSP00000331902.7:p.Val1658=
ENST00000361603.7:c.4956A>T ENSP00000354505.2:p.Val1652=
ENST00000510690.2:n.1468A>T
ENST00000644079.1:n.1805A>T
ENST00000328300.10:c.4974A>T ENSP00000331902.6:p.Val1658=
ENST00000361603.6:c.4956A>T ENSP00000354505.2:p.Val1652=
ENST00000504541.1:c.219+498A>T ENSP00000424845.1:n.219+498A>T
ENST00000515658.1:c.325-878A>T
NM_000495.4:c.4956A>T NP_000486.1:p.Val1652=
NM_033380.2:c.4974A>T NP_203699.1:p.Val1658=
XM_005262070.2:c.4965A>T XP_005262127.1:p.Val1655=
XM_006724616.2:c.4974A>T XP_006724679.1:p.Val1658=
XM_011530849.1:c.4650A>T XP_011529151.1:p.Val1550=
XM_011530851.1:c.2547A>T XP_011529153.1:p.Val849=
XM_011530849.2:c.4989A>T XP_011529151.2:p.Val1663=
XM_017029259.2:c.4980A>T XP_016884748.1:p.Val1660=
XM_017029260.1:c.4971A>T XP_016884749.1:p.Val1657=
XM_017029263.2:c.3309A>T XP_016884752.1:p.Val1103=
NM_000495.5:c.4956A>T NP_000486.1:p.Val1652=
NM_033380.3:c.4974A>T MANE Select NP_203699.1:p.Val1658=