Canonical Allele Identifier: CA258614
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886169
MyVariant Identifiers: chrX:g.107845171G>T (hg19) chrX:g.108601941G>T (hg38)
PubMed: PMID:18616531
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108601941G>T , CM000685.2:g.108601941G>T GRCh38
NC_000023.10:g.107845171G>T , CM000685.1:g.107845171G>T GRCh37
NC_000023.9:g.107731827G>T NCBI36
NG_011977.1:g.167018G>T
NG_011977.2:g.167018G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.2098G>T MANE Select ENSP00000331902.7:p.Glu700Ter
ENST00000361603.7:c.2098G>T ENSP00000354505.2:p.Glu700Ter
ENST00000328300.10:c.2098G>T ENSP00000331902.6:p.Glu700Ter
ENST00000361603.6:c.2098G>T ENSP00000354505.2:p.Glu700Ter
ENST00000483338.1:n.1554G>T
NM_000495.4:c.2098G>T NP_000486.1:p.Glu700Ter
NM_033380.2:c.2098G>T NP_203699.1:p.Glu700Ter
XM_005262070.2:c.2098G>T XP_005262127.1:p.Glu700Ter
XM_005262072.3:c.2098G>T XP_005262129.1:p.Glu700Ter
XM_006724616.2:c.2098G>T XP_006724679.1:p.Glu700Ter
XM_011530849.1:c.1774G>T XP_011529151.1:p.Glu592Ter
XM_011530850.1:c.2098G>T XP_011529152.1:p.Glu700Ter
XM_011530849.2:c.2113G>T XP_011529151.2:p.Glu705Ter
XM_017029259.2:c.2113G>T XP_016884748.1:p.Glu705Ter
XM_017029260.1:c.2113G>T XP_016884749.1:p.Glu705Ter
XM_017029261.1:c.2113G>T XP_016884750.1:p.Glu705Ter
XM_017029262.2:c.2113G>T XP_016884751.1:p.Glu705Ter
XM_017029263.2:c.433G>T XP_016884752.1:p.Glu145Ter
NM_000495.5:c.2098G>T NP_000486.1:p.Glu700Ter
NM_033380.3:c.2098G>T MANE Select NP_203699.1:p.Glu700Ter
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