Canonical Allele Identifier: CA15940836
Gene: SAE1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47158236G>A , CM000681.2:g.47158236G>A GRCh38
NC_000019.9:g.47661493G>A , CM000681.1:g.47661493G>A GRCh37
NC_000019.8:g.52353333G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000270225.12:c.627+3023G>A MANE Select ENSP00000270225.6:n.627+3023G>A
ENST00000659110.1:c.587+3023G>A
ENST00000660039.1:c.*189+1055G>A ENSP00000499743.1:n.*189+1055G>A
ENST00000664120.1:c.*12+1575G>A ENSP00000499784.1:n.*12+1575G>A
ENST00000270225.11:c.627+3023G>A ENSP00000270225.6:n.627+3023G>A
ENST00000392776.3:c.627+3023G>A ENSP00000440818.1:n.627+3023G>A
ENST00000413379.7:c.627+3023G>A ENSP00000416557.2:n.627+3023G>A
ENST00000414294.6:c.627+3023G>A ENSP00000398818.1:n.627+3023G>A
ENST00000594144.5:c.435+3023G>A ENSP00000471010.1:n.435+3023G>A
ENST00000596995.1:c.*558+3023G>A ENSP00000473037.1:n.*558+3023G>A
ENST00000598840.5:c.384+7861G>A ENSP00000470741.1:n.384+7861G>A
ENST00000600706.5:c.531+3023G>A ENSP00000468931.1:n.531+3023G>A
NM_001145713.1:c.627+3023G>A NP_001139185.1:n.627+3023G>A
NM_001145714.1:c.627+3023G>A NP_001139186.1:n.627+3023G>A
NM_005500.2:c.627+3023G>A NP_005491.1:n.627+3023G>A
NR_027280.1:n.784+3023G>A
XM_006722963.2:c.735+3023G>A XP_006723026.1:n.735+3023G>A
XM_006722965.2:c.735+3023G>A XP_006723028.1:n.735+3023G>A
XM_011526305.1:c.735+3023G>A XP_011524607.1:n.735+3023G>A
XM_006722963.3:c.627+3023G>A XP_006723026.2:n.627+3023G>A
XM_006722965.4:c.627+3023G>A XP_006723028.2:n.627+3023G>A
XM_017026135.2:c.627+3023G>A XP_016881624.2:n.627+3023G>A
XM_017026136.2:c.435+3023G>A XP_016881625.1:n.435+3023G>A
XM_024451306.1:c.435+3023G>A XP_024307074.1:n.435+3023G>A
XR_001753572.2:n.723+3023G>A
XR_002958233.1:n.723+3023G>A
NM_001145713.2:c.627+3023G>A NP_001139185.1:n.627+3023G>A
NM_001145714.2:c.627+3023G>A NP_001139186.1:n.627+3023G>A
NM_005500.3:c.627+3023G>A MANE Select NP_005491.1:n.627+3023G>A
NR_027280.2:n.807+3023G>A
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