Canonical Allele Identifier: CA410492865
Community Standard Title: NM_001112.4(ADARB1):c.1993G>T (p.Ala665Ser)
Gene: ADARB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45222084G>T , CM000683.2:g.45222084G>T GRCh38
NC_000021.8:g.46641999G>T , CM000683.1:g.46641999G>T GRCh37
NC_000021.7:g.45466427G>T NCBI36
NG_052015.1:g.152507G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001112.4:c.1993G>T MANE Select NP_001103.1:p.Ala665Ser
ENST00000348831.9:c.1993G>T MANE Select ENSP00000015877.6:p.Ala665Ser
NM_001112.3:c.1993G>T NP_001103.1:p.Ala665Ser
NM_001160230.1:c.1993G>T NP_001153702.1:p.Ala665Ser
NM_001160230.2:c.1993G>T NP_001153702.1:p.Ala665Ser
NM_001346687.1:c.*14G>T NP_001333616.1:n.*14G>T
NM_001346687.2:c.*14G>T NP_001333616.1:n.*14G>T
NM_001346688.1:c.1993G>T NP_001333617.1:p.Ala665Ser
NM_001346688.2:c.1993G>T NP_001333617.1:p.Ala665Ser
NM_015833.3:c.2113G>T NP_056648.1:p.Ala705Ser
NM_015833.4:c.2113G>T NP_056648.1:p.Ala705Ser
NM_015834.3:c.2113G>T NP_056649.1:p.Ala705Ser
NM_015834.4:c.2113G>T NP_056649.1:p.Ala705Ser
NR_027672.1:n.1493G>T
NR_027672.2:n.1491G>T
NR_027673.1:n.2546G>T
NR_027674.1:n.2428G>T
NR_027674.2:n.2426G>T
NR_073200.1:n.2548G>T
NR_073200.2:n.2546G>T
NR_144483.1:n.2428G>T
NR_144483.2:n.2426G>T
ENST00000348831.8:c.1993G>T ENSP00000015877.6:p.Ala665Ser
ENST00000360697.4:c.2113G>T ENSP00000353920.3:p.Ala705Ser
ENST00000389861.7:n.2524G>T
ENST00000389863.8:c.2113G>T ENSP00000374513.4:p.Ala705Ser
ENST00000437626.5:c.2113G>T ENSP00000414600.2:p.Ala705Ser
ENST00000449478.2:c.2113G>T ENSP00000387480.2:p.Ala705Ser
ENST00000492414.5:c.1993G>T ENSP00000436367.1:p.Ala665Ser
ENST00000496664.5:c.2113G>T ENSP00000435381.1:p.Ala705Ser
ENST00000629643.2:c.2077G>T ENSP00000486475.1:p.Ala693Ser
ENST00000705392.1:c.2140G>T ENSP00000516122.1:p.Ala714Ser
ENST00000705393.1:c.*14G>T ENSP00000516123.1:n.*14G>T
XM_006723954.2:c.2197G>T XP_006724017.1:p.Ala733Ser
XM_006723956.2:c.2113G>T XP_006724019.1:p.Ala705Ser
XM_011529424.1:c.2113G>T XP_011527726.1:p.Ala705Ser
XM_011529425.1:c.2206G>T XP_011527727.1:p.Ala736Ser
XM_011529425.2:c.2206G>T XP_011527727.1:p.Ala736Ser
XM_011529426.1:c.2113G>T XP_011527728.1:p.Ala705Ser
XM_011529427.1:c.1993G>T XP_011527729.1:p.Ala665Ser
XM_011529428.1:c.*14G>T XP_011527730.1:n.*14G>T
XM_011529432.1:c.1045G>T XP_011527734.1:p.Ala349Ser
XM_017028242.2:c.2260G>T XP_016883731.1:p.Ala754Ser
XM_017028243.1:c.2197G>T XP_016883732.1:p.Ala733Ser
XM_017028244.2:c.2260G>T XP_016883733.1:p.Ala754Ser
XM_017028245.2:c.2140G>T XP_016883734.1:p.Ala714Ser
XM_017028246.1:c.2197G>T XP_016883735.1:p.Ala733Ser
XM_017028247.1:c.2113G>T XP_016883736.1:p.Ala705Ser
XM_017028248.1:c.2113G>T XP_016883737.1:p.Ala705Ser
XM_017028249.1:c.2113G>T XP_016883738.1:p.Ala705Ser
XM_017028250.1:c.2113G>T XP_016883739.1:p.Ala705Ser
XM_017028251.1:c.2113G>T XP_016883740.1:p.Ala705Ser
XM_017028253.2:c.2140G>T XP_016883742.1:p.Ala714Ser
XM_017028254.1:c.2113G>T XP_016883743.1:p.Ala705Ser
XM_017028255.1:c.1993G>T XP_016883744.1:p.Ala665Ser
XM_024452043.1:c.*14G>T XP_024307811.1:n.*14G>T
XR_001754786.2:n.4222G>T
XR_001754787.2:n.4222G>T
XR_001754793.2:n.4248G>T