Canonical Allele Identifier: CA7674437
Community Standard Title: NM_020843.4(SCAPER):c.3431A>G (p.His1144Arg)
Gene: SCAPER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.76404560T>C , CM000677.2:g.76404560T>C GRCh38
NC_000015.9:g.76696901T>C , CM000677.1:g.76696901T>C GRCh37
NC_000015.8:g.74483956T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_020843.4:c.3431A>G MANE Select NP_065894.2:p.His1144Arg
ENST00000563290.6:c.3431A>G MANE Select ENSP00000454973.1:p.His1144Arg
NM_001145923.1:c.2693A>G NP_001139395.1:p.His898Arg
NM_001145923.2:c.2693A>G NP_001139395.1:p.His898Arg
NM_001353009.1:c.3449A>G NP_001339938.1:p.His1150Arg
NM_001353009.2:c.3449A>G NP_001339938.1:p.His1150Arg
NM_001353010.1:c.3029A>G NP_001339939.1:p.His1010Arg
NM_001353010.2:c.3029A>G NP_001339939.1:p.His1010Arg
NM_001353011.1:c.3047A>G NP_001339940.1:p.His1016Arg
NM_001353011.2:c.3047A>G NP_001339940.1:p.His1016Arg
NM_001353012.1:c.3029A>G NP_001339941.1:p.His1010Arg
NM_001353012.2:c.3029A>G NP_001339941.1:p.His1010Arg
NM_020843.2:c.3431A>G NP_065894.2:p.His1144Arg
NM_020843.3:c.3431A>G NP_065894.2:p.His1144Arg
NR_148227.1:n.3756A>G
NR_148227.2:n.3639A>G
ENST00000303521.10:n.3495A>G
ENST00000324767.11:c.3431A>G ENSP00000326924.7:p.His1144Arg
ENST00000538941.6:c.2693A>G ENSP00000442190.2:p.His898Arg
ENST00000563290.5:c.3431A>G ENSP00000454973.1:p.His1144Arg
XM_005254417.2:c.3449A>G XP_005254474.1:p.His1150Arg
XM_005254419.2:c.3431A>G XP_005254476.1:p.His1144Arg
XM_011521648.1:c.3605A>G XP_011519950.1:p.His1202Arg
XM_011521649.1:c.3587A>G XP_011519951.1:p.His1196Arg
XM_011521650.1:c.3449A>G XP_011519952.1:p.His1150Arg
XM_011521651.1:c.3486-22945A>G XP_011519953.1:n.3486-22945A>G
XM_011521652.1:c.3401A>G XP_011519954.1:p.His1134Arg
XM_011521653.1:c.3047A>G XP_011519955.1:p.His1016Arg
XM_011521653.3:c.3047A>G XP_011519955.1:p.His1016Arg
XM_011521654.1:c.2711A>G XP_011519956.1:p.His904Arg
XM_011521656.1:c.1589A>G XP_011519958.1:p.His530Arg
XM_011521656.3:c.1589A>G XP_011519958.1:p.His530Arg
XM_017022268.1:c.3449A>G XP_016877757.1:p.His1150Arg
XM_017022269.1:c.3431A>G XP_016877758.1:p.His1144Arg
XM_017022270.1:c.3431A>G XP_016877759.1:p.His1144Arg
XM_017022272.1:c.3330-22945A>G XP_016877761.1:n.3330-22945A>G
XM_017022273.1:c.3029A>G XP_016877762.1:p.His1010Arg
XM_017022275.2:c.2606A>G XP_016877764.1:p.His869Arg
XM_017022276.1:c.2606A>G XP_016877765.1:p.His869Arg
XM_017022277.2:c.2588A>G XP_016877766.1:p.His863Arg
XM_017022278.2:c.2588A>G XP_016877767.1:p.His863Arg
XM_024449937.1:c.3047A>G XP_024305705.1:p.His1016Arg
XM_024449938.1:c.2711A>G XP_024305706.1:p.His904Arg
XM_024449939.1:c.2693A>G XP_024305707.1:p.His898Arg
XR_002957646.1:n.3368A>G