Canonical Allele Identifier: CA399761905

Gene: UBTF ATXN7L3-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44211313C>T , CM000679.2:g.44211313C>T	GRCh38
NC_000017.10:g.42288681C>T , CM000679.1:g.42288681C>T	GRCh37
NC_000017.9:g.39644207C>T	NCBI36
NG_029864.1:g.15314G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014233.4:c.1066G>A (UBTF) MANE Select	NP_055048.1:p.Val356Met
ENST00000436088.6:c.1066G>A (UBTF) MANE Select	ENSP00000390669.1:p.Val356Met
NM_001076683.1:c.955G>A (UBTF)	NP_001070151.1:p.Val319Met
NM_001076683.2:c.955G>A (UBTF)	NP_001070151.1:p.Val319Met
NM_001076684.2:c.955G>A (UBTF)	NP_001070152.1:p.Val319Met
NM_001076684.3:c.955G>A (UBTF)	NP_001070152.1:p.Val319Met
NM_014233.3:c.1066G>A (UBTF)	NP_055048.1:p.Val356Met
NR_045058.1:n.1559G>A (UBTF)
NR_045058.2:n.1237G>A (UBTF)
ENST00000302904.8:c.1066G>A (UBTF)	ENSP00000302640.4:p.Val356Met
ENST00000343638.9:c.955G>A (UBTF)	ENSP00000345297.5:p.Val319Met
ENST00000393606.7:c.955G>A (UBTF)	ENSP00000377231.3:p.Val319Met
ENST00000436088.5:c.1066G>A (UBTF)	ENSP00000390669.1:p.Val356Met
ENST00000526094.5:c.955G>A (UBTF)	ENSP00000432925.1:p.Val319Met
ENST00000527034.5:c.955G>A (UBTF)	ENSP00000431539.1:p.Val319Met
ENST00000529383.5:c.1066G>A (UBTF)	ENSP00000435708.1:p.Val356Met
ENST00000533177.5:c.955G>A (UBTF)	ENSP00000437180.1:p.Val319Met
ENST00000704740.1:c.955G>A (UBTF)	ENSP00000516018.1:p.Val319Met
ENST00000704741.1:c.1066G>A (UBTF)	ENSP00000516019.1:p.Val356Met
ENST00000704742.1:c.955G>A (UBTF)	ENSP00000516020.1:p.Val319Met
ENST00000704746.1:c.1066G>A (UBTF)	ENSP00000516023.1:p.Val356Met
XM_006722059.2:c.1066G>A (UBTF)	XP_006722122.1:p.Val356Met
XM_006722059.4:c.1066G>A (UBTF)	XP_006722122.1:p.Val356Met
XM_006722060.1:c.1066G>A (UBTF)	XP_006722123.1:p.Val356Met
XM_006722060.3:c.1066G>A (UBTF)	XP_006722123.1:p.Val356Met
XM_006722061.1:c.1066G>A (UBTF)	XP_006722124.1:p.Val356Met
XM_006722061.3:c.1066G>A (UBTF)	XP_006722124.1:p.Val356Met
XM_011525177.1:c.586G>A (UBTF)	XP_011523479.1:p.Val196Met
XM_017024995.2:c.1066G>A (UBTF)	XP_016880484.1:p.Val356Met
XM_017024996.1:c.1066G>A (UBTF)	XP_016880485.1:p.Val356Met
XM_017024997.2:c.1066G>A (UBTF)	XP_016880486.1:p.Val356Met
XM_017024998.1:c.1066G>A (UBTF)	XP_016880487.1:p.Val356Met
XM_017024999.1:c.1066G>A (UBTF)	XP_016880488.1:p.Val356Met
XM_017025000.2:c.955G>A (UBTF)	XP_016880489.1:p.Val319Met
XM_017025001.1:c.955G>A (UBTF)	XP_016880490.1:p.Val319Met
XM_017025002.2:c.955G>A (UBTF)	XP_016880491.1:p.Val319Met
XM_017025003.2:c.955G>A (UBTF)	XP_016880492.1:p.Val319Met
XM_017025004.2:c.955G>A (UBTF)	XP_016880493.1:p.Val319Met
XM_024450907.1:c.955G>A (UBTF)	XP_024306675.1:p.Val319Met
XR_243706.2:n.89-11149C>T (ATXN7L3-AS1)
XR_243706.4:n.195-11149C>T (ATXN7L3-AS1)