Canonical Allele Identifier: CA8031362

Gene: RUSF1 SLC5A2

Linked Data

• ClinVar Variation Id: 319076
• ClinVar RCV Id: RCV000350843
• dbSNP Id: rs535031004
• ExAC: 16:31501714 C / T
• gnomAD v2: 16-31501714-C-T
• gnomAD v3: 16-31490393-C-T
• gnomAD v4: 16-31490393-C-T
• MyVariant Identifiers: chr16:g.31501714C>T (hg19) ; chr16:g.31490393C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31490393C>T , CM000678.2:g.31490393C>T	GRCh38
NC_000016.9:g.31501714C>T , CM000678.1:g.31501714C>T	GRCh37
NC_000016.8:g.31409215C>T	NCBI36
NG_012892.1:g.12276C>T
NG_033149.1:g.23027G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327237.7:c.*442G>A (RUSF1) MANE Select	ENSP00000317579.2:n.*442G>A
ENST00000330498.4:c.1877C>T (SLC5A2) MANE Select	ENSP00000327943.3:p.Pro626Leu
ENST00000327237.6:c.*442G>A (RUSF1)	ENSP00000317579.2:n.*442G>A
ENST00000330498.3:c.1877C>T (SLC5A2)	ENSP00000327943.3:p.Pro626Leu
ENST00000419665.6:c.*180C>T (SLC5A2)	ENSP00000410601.2:n.*180C>T
ENST00000430477.6:c.*401+41G>A (RUSF1)	ENSP00000398074.3:n.*401+41G>A
ENST00000564197.1:n.217-186C>T (SLC5A2)
ENST00000567051.1:n.187-305C>T (SLC5A2)
ENST00000567994.5:c.*442G>A (RUSF1)	ENSP00000456050.1:n.*442G>A
ENST00000568188.1:n.2091C>T (SLC5A2)
ENST00000568491.1:n.1523G>A (RUSF1)
ENST00000570164.5:c.*442G>A (RUSF1)	ENSP00000456775.1:n.*442G>A
NM_003041.3:c.1877C>T (SLC5A2)	NP_003032.1:p.Pro626Leu
NM_022744.3:c.*442G>A (RUSF1)	NP_073581.2:n.*442G>A
NR_130783.1:n.1576C>T (SLC5A2)
XM_006721072.2:c.1976C>T (SLC5A2)	XP_006721135.2:p.Pro659Leu
XR_950831.1:n.1807G>A (RUSF1)
XM_006721072.4:c.1976C>T (SLC5A2)	XP_006721135.2:p.Pro659Leu
XM_017023570.1:c.*442G>A (RUSF1)	XP_016879059.1:n.*442G>A
XM_024450402.1:c.*258C>T (SLC5A2)	XP_024306170.1:n.*258C>T
XR_950831.3:n.1807G>A (RUSF1)
NM_003041.4:c.1877C>T (SLC5A2) MANE Select	NP_003032.1:p.Pro626Leu
NM_022744.4:c.*442G>A (RUSF1) MANE Select	NP_073581.2:n.*442G>A
NR_130783.2:n.1571C>T (SLC5A2)