Canonical Allele Identifier: CA122779
Gene: RUSF1 HGNC NCBI
SLC5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12905
ClinVar RCV Id: RCV000013768 RCV003914837 RCV001512825 RCV002247333
dbSNP Id: rs61742739
ExAC: 16:31501798 A / G
gnomAD v2: 16-31501798-A-G
gnomAD v3: 16-31490477-A-G
gnomAD v4: 16-31490477-A-G
MyVariant Identifiers: chr16:g.31501798A>G (hg19) chr16:g.31490477A>G (hg38)
PubMed: PMID:14614622
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31490477A>G , CM000678.2:g.31490477A>G GRCh38
NC_000016.9:g.31501798A>G , CM000678.1:g.31501798A>G GRCh37
NC_000016.8:g.31409299A>G NCBI36
NG_012892.1:g.12360A>G
NG_033149.1:g.22943T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327237.7:c.*358T>C (RUSF1) MANE Select ENSP00000317579.2:n.*358T>C
ENST00000330498.4:c.1961A>G (SLC5A2) MANE Select ENSP00000327943.3:p.Asn654Ser
ENST00000327237.6:c.*358T>C (RUSF1) ENSP00000317579.2:n.*358T>C
ENST00000330498.3:c.1961A>G (SLC5A2) ENSP00000327943.3:p.Asn654Ser
ENST00000419665.6:c.*264A>G (SLC5A2) ENSP00000410601.2:n.*264A>G
ENST00000430477.6:c.*358T>C (RUSF1) ENSP00000398074.3:n.*358T>C
ENST00000564197.1:n.217-102A>G (SLC5A2)
ENST00000567051.1:n.187-221A>G (SLC5A2)
ENST00000567994.5:c.*358T>C (RUSF1) ENSP00000456050.1:n.*358T>C
ENST00000568188.1:n.2175A>G (SLC5A2)
ENST00000568491.1:n.1439T>C (RUSF1)
ENST00000570164.5:c.*358T>C (RUSF1) ENSP00000456775.1:n.*358T>C
NM_003041.3:c.1961A>G (SLC5A2) NP_003032.1:p.Asn654Ser
NM_022744.3:c.*358T>C (RUSF1) NP_073581.2:n.*358T>C
NR_130783.1:n.1660A>G (SLC5A2)
XM_006721072.2:c.2060A>G (SLC5A2) XP_006721135.2:p.Asn687Ser
XR_950831.1:n.1723T>C (RUSF1)
XM_006721072.4:c.2060A>G (SLC5A2) XP_006721135.2:p.Asn687Ser
XM_017023570.1:c.*358T>C (RUSF1) XP_016879059.1:n.*358T>C
XM_024450402.1:c.*342A>G (SLC5A2) XP_024306170.1:n.*342A>G
XR_950831.3:n.1723T>C (RUSF1)
NM_003041.4:c.1961A>G (SLC5A2) MANE Select NP_003032.1:p.Asn654Ser
NM_022744.4:c.*358T>C (RUSF1) MANE Select NP_073581.2:n.*358T>C
NR_130783.2:n.1655A>G (SLC5A2)
Search 100 bp 5'
Search 100 bp 3'