Canonical Allele Identifier: CA12747239
Community Standard Title: NM_014629.4(ARHGEF10):c.2143+65T>C
Gene: ARHGEF10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.1909535T>C , CM000670.2:g.1909535T>C GRCh38
NC_000008.10:g.1857701T>C , CM000670.1:g.1857701T>C GRCh37
NC_000008.9:g.1845108T>C NCBI36
NG_008480.1:g.90553T>C , LRG_234:g.90553T>C

Transcript Alleles

HGVS Amino-acid Change
NM_014629.4:c.2143+65T>C MANE Select NP_055444.2:n.2143+65T>C
ENST00000349830.8:c.2143+65T>C MANE Select ENSP00000340297.3:n.2143+65T>C
NM_001308152.1:c.2029+65T>C NP_001295081.1:n.2029+65T>C
NM_001308152.2:c.2029+65T>C NP_001295081.1:n.2029+65T>C
NM_001308153.1:c.2215+65T>C NP_001295082.1:n.2215+65T>C
NM_001308153.2:c.2215+65T>C NP_001295082.1:n.2215+65T>C
NM_014629.2:c.2143+65T>C , LRG_234t1:c.2143+65T>C NP_055444.2:n.2143+65T>C
NM_014629.3:c.2143+65T>C NP_055444.2:n.2143+65T>C
ENST00000349830.7:c.2143+65T>C ENSP00000340297.3:n.2143+65T>C
ENST00000398564.5:c.2218+65T>C ENSP00000381571.1:n.2218+65T>C
ENST00000518288.5:c.2215+65T>C ENSP00000431012.1:n.2215+65T>C
ENST00000520359.5:c.2029+65T>C ENSP00000427909.1:n.2029+65T>C
ENST00000522435.5:c.1162+65T>C ENSP00000427768.1:n.1162+65T>C
ENST00000523711.5:n.1867+65T>C
ENST00000524212.1:n.399+65T>C
ENST00000635773.1:c.2671+65T>C
ENST00000635855.1:c.*2097+65T>C ENSP00000489726.1:n.*2097+65T>C
XM_005266041.2:c.2146+65T>C XP_005266098.1:n.2146+65T>C
XM_005266041.4:c.2146+65T>C XP_005266098.1:n.2146+65T>C
XM_011534766.1:c.2146+65T>C XP_011533068.1:n.2146+65T>C
XM_011534767.1:c.2026+65T>C XP_011533069.1:n.2026+65T>C
XM_011534767.2:c.2026+65T>C XP_011533069.1:n.2026+65T>C
XM_011534768.1:c.2146+65T>C XP_011533070.1:n.2146+65T>C
XM_011534769.1:c.2101+65T>C XP_011533071.1:n.2101+65T>C
XM_011534770.1:c.2146+65T>C XP_011533072.1:n.2146+65T>C
XM_011534770.2:c.2146+65T>C XP_011533072.1:n.2146+65T>C
XM_017014003.1:c.2218+65T>C XP_016869492.1:n.2218+65T>C
XM_024447334.1:c.2146+65T>C XP_024303102.1:n.2146+65T>C
XM_024447335.1:c.2230+65T>C XP_024303103.1:n.2230+65T>C