Canonical Allele Identifier: CA258333
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886442
MyVariant Identifiers: chrX:g.107823821G>T (hg19) chrX:g.108580591G>T (hg38)
PubMed: PMID:15780079
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108580591G>T , CM000685.2:g.108580591G>T GRCh38
NC_000023.10:g.107823821G>T , CM000685.1:g.107823821G>T GRCh37
NC_000023.9:g.107710477G>T NCBI36
NG_011977.1:g.145668G>T
NG_011977.2:g.145668G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.834+5G>T MANE Select ENSP00000331902.7:n.834+5G>T
ENST00000361603.7:c.834+5G>T ENSP00000354505.2:n.834+5G>T
ENST00000328300.10:c.834+5G>T ENSP00000331902.6:n.834+5G>T
ENST00000361603.6:c.834+5G>T ENSP00000354505.2:n.834+5G>T
NM_000495.4:c.834+5G>T NP_000486.1:n.834+5G>T
NM_033380.2:c.834+5G>T NP_203699.1:n.834+5G>T
XM_005262070.2:c.834+5G>T XP_005262127.1:n.834+5G>T
XM_005262072.3:c.834+5G>T XP_005262129.1:n.834+5G>T
XM_006724616.2:c.834+5G>T XP_006724679.1:n.834+5G>T
XM_011530849.1:c.510+5G>T XP_011529151.1:n.510+5G>T
XM_011530850.1:c.834+5G>T XP_011529152.1:n.834+5G>T
XM_011530849.2:c.849+5G>T XP_011529151.2:n.849+5G>T
XM_017029259.2:c.849+5G>T XP_016884748.1:n.849+5G>T
XM_017029260.1:c.849+5G>T XP_016884749.1:n.849+5G>T
XM_017029261.1:c.849+5G>T XP_016884750.1:n.849+5G>T
XM_017029262.2:c.849+5G>T XP_016884751.1:n.849+5G>T
NM_000495.5:c.834+5G>T NP_000486.1:n.834+5G>T
NM_033380.3:c.834+5G>T MANE Select NP_203699.1:n.834+5G>T
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