Canonical Allele Identifier: CA258987
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886269
MyVariant Identifiers: chrX:g.107925056G>T (hg19) chrX:g.108681826G>T (hg38)
PubMed: PMID:8651296
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108681826G>T , CM000685.2:g.108681826G>T GRCh38
NC_000023.10:g.107925056G>T , CM000685.1:g.107925056G>T GRCh37
NC_000023.9:g.107811712G>T NCBI36
NG_011977.1:g.246903G>T
NG_011977.2:g.246903G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4154G>T MANE Select ENSP00000331902.7:p.Gly1385Val
ENST00000361603.7:c.4136G>T ENSP00000354505.2:p.Gly1379Val
ENST00000510690.2:n.648G>T
ENST00000328300.10:c.4154G>T ENSP00000331902.6:p.Gly1385Val
ENST00000361603.6:c.4136G>T ENSP00000354505.2:p.Gly1379Val
ENST00000489230.1:n.557G>T
NM_000495.4:c.4136G>T NP_000486.1:p.Gly1379Val
NM_033380.2:c.4154G>T NP_203699.1:p.Gly1385Val
XM_005262070.2:c.4145G>T XP_005262127.1:p.Gly1382Val
XM_006724616.2:c.4154G>T XP_006724679.1:p.Gly1385Val
XM_011530849.1:c.3830G>T XP_011529151.1:p.Gly1277Val
XM_011530851.1:c.1727G>T XP_011529153.1:p.Gly576Val
XM_011530849.2:c.4169G>T XP_011529151.2:p.Gly1390Val
XM_017029259.2:c.4160G>T XP_016884748.1:p.Gly1387Val
XM_017029260.1:c.4151G>T XP_016884749.1:p.Gly1384Val
XM_017029263.2:c.2489G>T XP_016884752.1:p.Gly830Val
NM_000495.5:c.4136G>T NP_000486.1:p.Gly1379Val
NM_033380.3:c.4154G>T MANE Select NP_203699.1:p.Gly1385Val
Search 100 bp 5'
Search 100 bp 3'