Canonical Allele Identifier: CA355719199
Community Standard Title: NM_014375.3(FETUB):c.401C>T (p.Ala134Val)
Gene: FETUB HGNC NCBI
HRG-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186642535C>T , CM000665.2:g.186642535C>T GRCh38
NC_000003.11:g.186360324C>T , CM000665.1:g.186360324C>T GRCh37
NC_000003.10:g.187843018C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_014375.3:c.401C>T (FETUB) MANE Select NP_055190.2:p.Ala134Val
ENST00000265029.8:c.401C>T (FETUB) MANE Select ENSP00000265029.3:p.Ala134Val
NM_001308077.1:c.290C>T (FETUB) NP_001295006.1:p.Ala97Val
NM_001308077.4:c.290C>T (FETUB) NP_001295006.1:p.Ala97Val
NM_001308079.1:c.229+1846C>T (FETUB) NP_001295008.1:n.229+1846C>T
NM_001308079.4:c.229+1846C>T (FETUB) NP_001295008.1:n.229+1846C>T
NM_001375587.2:c.401C>T (FETUB) NP_001362516.1:p.Ala134Val
NM_001375588.2:c.86C>T (FETUB) NP_001362517.1:p.Ala29Val
NM_001375589.2:c.-20-2216C>T (FETUB) NP_001362518.1:n.-20-2216C>T
NM_001375590.2:c.-21+1395C>T (FETUB) NP_001362519.1:n.-21+1395C>T
NM_001375591.2:c.-21+1395C>T (FETUB) NP_001362520.1:n.-21+1395C>T
NM_001375592.2:c.-21+1850C>T (FETUB) NP_001362521.1:n.-21+1850C>T
NM_014375.2:c.401C>T (FETUB) NP_055190.2:p.Ala134Val
ENST00000265029.7:c.401C>T (FETUB) ENSP00000265029.3:p.Ala134Val
ENST00000382134.7:c.229+1846C>T (FETUB) ENSP00000371569.3:n.229+1846C>T
ENST00000382136.3:c.290C>T (FETUB) ENSP00000371571.3:p.Ala97Val
ENST00000420570.1:c.*126C>T (FETUB) ENSP00000405438.1:n.*126C>T
ENST00000431018.5:c.-20-2216C>T (FETUB) ENSP00000396581.1:n.-20-2216C>T
ENST00000435961.5:c.336+1395C>T (FETUB) ENSP00000393851.1:n.336+1395C>T
ENST00000450521.5:c.401C>T (FETUB) ENSP00000404288.1:p.Ala134Val
ENST00000488561.1:n.245+1850C>T (FETUB)
XM_005247351.2:c.-21+1395C>T (FETUB) XP_005247408.1:n.-21+1395C>T
XM_005247351.3:c.-21+1395C>T (FETUB) XP_005247408.1:n.-21+1395C>T
XM_011512681.1:c.401C>T (FETUB) XP_011510983.1:p.Ala134Val
XM_011512681.2:c.401C>T (FETUB) XP_011510983.1:p.Ala134Val
XM_011512682.1:c.86C>T (FETUB) XP_011510984.1:p.Ala29Val
XM_011512682.2:c.86C>T (FETUB) XP_011510984.1:p.Ala29Val
XM_011512683.1:c.-20-2216C>T (FETUB) XP_011510985.1:n.-20-2216C>T
XM_011512683.2:c.-20-2216C>T (FETUB) XP_011510985.1:n.-20-2216C>T
XM_011512684.1:c.-21+1850C>T (FETUB) XP_011510986.1:n.-21+1850C>T
XM_024453452.1:c.-21+1395C>T (FETUB) XP_024309220.1:n.-21+1395C>T
XR_001741058.1:n.720-241G>A (HRG-AS1)
XR_001741059.1:n.574-241G>A (HRG-AS1)
XR_924799.1:n.784-407G>A (HRG-AS1)
XR_924800.1:n.719-407G>A (HRG-AS1)
XR_924801.1:n.573-407G>A (HRG-AS1)
XR_924801.2:n.574-407G>A (HRG-AS1)
XR_924802.1:n.784-241G>A (HRG-AS1)
XR_924803.1:n.656-407G>A (HRG-AS1)
XR_924804.1:n.427-407G>A (HRG-AS1)
XR_924804.2:n.437-407G>A (HRG-AS1)
XR_924805.1:n.241-407G>A (HRG-AS1)
XR_924806.1:n.125-407G>A (HRG-AS1)