Canonical Allele Identifier: CA2217074226

Gene: RUSF1 SLC5A2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_003041.4:c.1961A= (SLC5A2) MANE Select	NP_003032.1:p.Asn654=
NM_022744.4:c.*358T= (RUSF1) MANE Select	NP_073581.2:n.*358T=
ENST00000327237.7:c.*358T= (RUSF1) MANE Select	ENSP00000317579.2:n.*358T=
ENST00000330498.4:c.1961A= (SLC5A2) MANE Select	ENSP00000327943.3:p.Asn654=
NM_003041.3:c.1961A= (SLC5A2)	NP_003032.1:p.Asn654=
NM_022744.3:c.*358T= (RUSF1)	NP_073581.2:n.*358T=
NR_130783.1:n.1660A= (SLC5A2)
NR_130783.2:n.1655A= (SLC5A2)
ENST00000327237.6:c.*358T= (RUSF1)	ENSP00000317579.2:n.*358T=
ENST00000330498.3:c.1961A= (SLC5A2)	ENSP00000327943.3:p.Asn654=
ENST00000419665.6:c.*264A= (SLC5A2)	ENSP00000410601.2:n.*264A=
ENST00000430477.6:c.*358T= (RUSF1)	ENSP00000398074.3:n.*358T=
ENST00000564197.1:n.217-102A= (SLC5A2)
ENST00000567051.1:n.187-221A= (SLC5A2)
ENST00000567994.5:c.*358T= (RUSF1)	ENSP00000456050.1:n.*358T=
ENST00000568188.1:n.2175A= (SLC5A2)
ENST00000568491.1:n.1439T= (RUSF1)
ENST00000570164.5:c.*358T= (RUSF1)	ENSP00000456775.1:n.*358T=
XM_006721072.2:c.2060A= (SLC5A2)	XP_006721135.2:p.Asn687=
XM_006721072.4:c.2060A= (SLC5A2)	XP_006721135.2:p.Asn687=
XM_017023570.1:c.*358T= (RUSF1)	XP_016879059.1:n.*358T=
XM_024450402.1:c.*342A= (SLC5A2)	XP_024306170.1:n.*342A=
XR_950831.1:n.1723T= (RUSF1)
XR_950831.3:n.1723T= (RUSF1)