Canonical Allele Identifier: CA517924061
Gene: COL4A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.107863550A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108620320A>T , CM000685.2:g.108620320A>T GRCh38
NC_000023.10:g.107863550A>T , CM000685.1:g.107863550A>T GRCh37
NC_000023.9:g.107750206A>T NCBI36
NG_011977.1:g.185397A>T
NG_011977.2:g.185397A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.2571A>T MANE Select ENSP00000331902.7:p.Gly857=
ENST00000361603.7:c.2571A>T ENSP00000354505.2:p.Gly857=
ENST00000328300.10:c.2571A>T ENSP00000331902.6:p.Gly857=
ENST00000361603.6:c.2571A>T ENSP00000354505.2:p.Gly857=
ENST00000483338.1:n.2027A>T
NM_000495.4:c.2571A>T NP_000486.1:p.Gly857=
NM_033380.2:c.2571A>T NP_203699.1:p.Gly857=
XM_005262070.2:c.2571A>T XP_005262127.1:p.Gly857=
XM_005262072.3:c.2571A>T XP_005262129.1:p.Gly857=
XM_006724616.2:c.2571A>T XP_006724679.1:p.Gly857=
XM_011530849.1:c.2247A>T XP_011529151.1:p.Gly749=
XM_011530850.1:c.2571A>T XP_011529152.1:p.Gly857=
XM_011530851.1:c.144A>T XP_011529153.1:p.Gly48=
XM_011530849.2:c.2586A>T XP_011529151.2:p.Gly862=
XM_017029259.2:c.2586A>T XP_016884748.1:p.Gly862=
XM_017029260.1:c.2586A>T XP_016884749.1:p.Gly862=
XM_017029261.1:c.2586A>T XP_016884750.1:p.Gly862=
XM_017029262.2:c.2586A>T XP_016884751.1:p.Gly862=
XM_017029263.2:c.906A>T XP_016884752.1:p.Gly302=
NM_000495.5:c.2571A>T NP_000486.1:p.Gly857=
NM_033380.3:c.2571A>T MANE Select NP_203699.1:p.Gly857=